Gap Junction Protein Beta 1 (GJb1)

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CMTX1; CX32; GJ-B1; Connexin 32; Charcot-Marie-Tooth Neuropathy,X-Linked; GAP junction 28 kDa liver protein

Gap Junction Protein Beta 1 (GJb1)

Gap junction protein, beta 1, 32kDa, also known as GJB1.CMTX1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.
 

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC499Hu01 Recombinant Gap Junction Protein Beta 1 (GJb1) Positive Control; Immunogen; SDS-PAGE; WB.
CPC499Hu21 OVA Conjugated Gap Junction Protein Beta 1 (GJb1) Immunogen; SDS-PAGE; WB.
SPC499Hu01 Synthetic Gap Junction Protein Beta 1 (GJb1) Immunogen; Blocking Peptide.
Antibodies PAC499Hu01 Polyclonal Antibody to Gap Junction Protein Beta 1 (GJb1) WB; IHC; ICC; IP.
MAC499Hu22 Monoclonal Antibody to Gap Junction Protein Beta 1 (GJb1) WB; IHC; ICC; IP.
Assay Kits SEC499Hu ELISA Kit for Gap Junction Protein Beta 1 (GJb1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gap Junction Protein Beta 1 (GJb1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gap Junction Protein Beta 1 (GJb1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gap Junction Protein Beta 1 (GJb1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gap Junction Protein Beta 1 (GJb1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gap Junction Protein Beta 1 (GJb1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gap Junction Protein Beta 1 (GJb1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gap Junction Protein Beta 1 (GJb1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gap Junction Protein Beta 1 (GJb1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gap Junction Protein Beta 1 (GJb1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gap Junction Protein Beta 1 (GJb1) ELISA Kit Customized Service Offer
  1. "Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein."J. Cell Biol. 103:767-776(1986) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations."EMBO J. 7:2967-2975(1988) [PubMed] [Europe PMC] [Abstract]
  5. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  6. "A Calpha model for the transmembrane alpha helices of gap junction intercellular channels."Mol. Cell 15:879-888(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies."Hum. Mutat. 13:11-28(1999) [PubMed] [Europe PMC] [Abstract]
  8. "Connexin mutations in X-linked Charcot-Marie-Tooth disease."Science 262:2039-2042(1993) [PubMed] [Europe PMC] [Abstract]
  9. "Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX)."Am. J. Hum. Genet. 55:A216-A216(1994)
  10. "Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)."Hum. Mol. Genet. 3:29-34(1994) [PubMed] [Europe PMC] [Abstract]
  11. "Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy."Hum. Mol. Genet. 3:355-358(1994) [PubMed] [Europe PMC] [Abstract]
  12. "X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32."Hum. Mol. Genet. 3:1699-1700(1994) [PubMed] [Europe PMC] [Abstract]
  13. "New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease."Neurology 45:1863-1866(1995) [PubMed] [Europe PMC] [Abstract]
  14. "Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy."Am. J. Med. Genet. 63:486-491(1996) [PubMed] [Europe PMC] [Abstract]
  15. "X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene."Hum. Genet. 98:172-175(1996) [PubMed] [Europe PMC] [Abstract]
  16. "Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease."Hum. Mutat. 7:167-171(1996) [PubMed] [Europe PMC] [Abstract]
  17. "Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy."Hum. Mutat. 8:83-84(1996) [PubMed] [Europe PMC] [Abstract]
  18. "Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families."Hum. Mutat. 8:270-272(1996) [PubMed] [Europe PMC] [Abstract]
  19. "A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy."Hum. Mutat. 8:375-376(1996) [PubMed] [Europe PMC] [Abstract]
  20. "Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease."J. Med. Genet. 33:413-415(1996) [PubMed] [Europe PMC] [Abstract]
  21. "Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13."Neurology 46:1311-1318(1996) [PubMed] [Europe PMC] [Abstract]
  22. "New mutations in the X-linked form of Charcot-Marie-Tooth disease."Eur. Neurol. 37:38-42(1997) [PubMed] [Europe PMC] [Abstract]
  23. "Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)."Hum. Genet. 99:501-505(1997) [PubMed] [Europe PMC] [Abstract]
  24. "Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies."Hum. Genet. 99:746-754(1997) [PubMed] [Europe PMC] [Abstract]
  25. "Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance."Hum. Genet. 100:391-397(1997) [PubMed] [Europe PMC] [Abstract]
  26. "Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations."Hum. Mutat. 9:47-52(1997) [PubMed] [Europe PMC] [Abstract]
  27. "Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families."Hum. Mutat. 10:443-452(1997) [PubMed] [Europe PMC] [Abstract]
  28. "Connexin32 and X-linked Charcot-Marie-Tooth disease."Neurobiol. Dis. 4:221-230(1997) [PubMed] [Europe PMC] [Abstract]
  29. "Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population."Neurogenetics 1:117-123(1997) [PubMed] [Europe PMC] [Abstract]
  30. "Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1."Am. J. Med. Genet. 80:352-355(1998) [PubMed] [Europe PMC] [Abstract]
  31. "X-linked Charcot-Marie-Tooth disease and connexin32."Cell Biol. Int. 22:807-813(1998) [PubMed] [Europe PMC] [Abstract]
  32. "A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease."Hum. Mutat. Suppl. 1:S8-S9(1998) [PubMed] [Europe PMC] [Abstract]
  33. "Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)."Hum. Mutat. Suppl. 1:S242-S247(1998) [PubMed] [Europe PMC] [Abstract]
  34. "Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies."Hum. Mutat. 12:59-68(1998) [PubMed] [Europe PMC] [Abstract]
  35. "Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression."J. Neurosci. Res. 51:154-161(1998) [PubMed] [Europe PMC] [Abstract]
  36. "Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations."Neurology 51:1412-1416(1998) [PubMed] [Europe PMC] [Abstract]
  37. "HMSN and HNPP. Laboratory service provision in the south west of England -- two years' experience."Ann. N. Y. Acad. Sci. 883:500-503(1999) [PubMed] [Europe PMC] [Abstract]
  38. "Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E."Hum. Mutat. 13:339-339(1999) [PubMed] [Europe PMC] [Abstract]
  39. "Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene."J. Neurol. Neurosurg. Psych. 66:202-206(1999) [PubMed] [Europe PMC] [Abstract]
  40. "Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations."J. Neurosci. 19:3752-3760(1999) [PubMed] [Europe PMC] [Abstract]
  41. "Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients."Clin. Genet. 58:396-402(2000) [PubMed] [Europe PMC] [Abstract]
  42. "A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation."Eur. J. Paediatr. Neurol. 4:235-238(2000) [PubMed] [Europe PMC] [Abstract]
  43. "Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene."Eur. Neurol. 44:61-63(2000) [PubMed] [Europe PMC] [Abstract]
  44. "Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients."Hum. Mutat. 15:340-347(2000) [PubMed] [Europe PMC] [Abstract]
  45. ErratumHum. Mutat. 16:175-175(2000)
  46. "Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease."Hum. Mutat. 16:177-178(2000) [PubMed] [Europe PMC] [Abstract]
  47. "A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease."Neurol. Sci. 21:109-112(2000) [PubMed] [Europe PMC] [Abstract]
  48. "Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease."Brain 124:1958-1967(2001) [PubMed] [Europe PMC] [Abstract]
  49. "A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease."Hum. Mutat. 17:157-157(2001) [PubMed] [Europe PMC] [Abstract]
  50. "Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families."Hum. Mutat. 18:32-41(2001) [PubMed] [Europe PMC] [Abstract]
  51. "Charcot-Marie-Tooth type X: a novel mutation in the Cx32 gene with central conduction slowing."Int. J. Mol. Med. 8:461-468(2001) [PubMed] [Europe PMC] [Abstract]
  52. "Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity."J. Neurol. 248:410-415(2001) [PubMed] [Europe PMC] [Abstract]
  53. "Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene."Neurology 57:1906-1908(2001) [PubMed] [Europe PMC] [Abstract]
  54. "Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation."Ann. Neurol. 51:190-201(2002) [PubMed] [Europe PMC] [Abstract]
  55. "Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease."Ann. Neurol. 52:429-434(2002) [PubMed] [Europe PMC] [Abstract]
  56. "Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations."Hum. Mutat. 20:392-398(2002) [PubMed] [Europe PMC] [Abstract]
  57. "Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease."J. Neurol. Neurosurg. Psych. 73:304-306(2002) [PubMed] [Europe PMC] [Abstract]
  58. "Diverse trafficking abnormalities of connexin32 mutants causing CMTX."Neurobiol. Dis. 11:43-52(2002) [PubMed] [Europe PMC] [Abstract]
  59. "X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene."Neurol. Sci. 23:195-197(2002) [PubMed] [Europe PMC] [Abstract]
  60. "Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes."Neuromuscul. Disord. 12:643-650(2002) [PubMed] [Europe PMC] [Abstract]
  61. "Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease."Proc. Natl. Acad. Sci. U.S.A. 99:3980-3984(2002) [PubMed] [Europe PMC] [Abstract]
  62. "Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation."Arch. Neurol. 60:605-609(2003) [PubMed] [Europe PMC] [Abstract]
  63. "Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients."Brain 126:134-151(2003) [PubMed] [Europe PMC] [Abstract]
  64. "Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1."Hum. Mutat. 21:100-100(2003) [PubMed] [Europe PMC] [Abstract]
  65. "Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32."J. Neurosci. 23:10548-10558(2003) [PubMed] [Europe PMC] [Abstract]
  66. "Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients."Hum. Mutat. 24:185-186(2004) [PubMed] [Europe PMC] [Abstract]
  67. ErratumHum. Mutat. 24:350-350(2004)
  68. "Severe neuropathy with leaky connexin32 hemichannels."Ann. Neurol. 57:749-754(2005) [PubMed] [Europe PMC] [Abstract]
  69. "X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene."Muscle Nerve 31:252-255(2005) [PubMed] [Europe PMC] [Abstract]
  70. "Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family."Neurogenetics 6:159-163(2005) [PubMed] [Europe PMC] [Abstract]