Alkaline Phosphatase, Tissue-nonspecific (ALPL)
[Edit]BALP; BSAP; HOPS; AP-TNAP; TNSALP; Bone Alkaline Phosphatase; Alkaline Phosphatase,Tissue-Nonspecific Isozyme; Alkaline Phosphatase, Liver/Bone/Kidney
Alkaline phosphatase, tissue-nonspecific isozyme is an enzyme encoded by the ALPL gene.There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization, however, mice that lack a functional form of this enzyme show normal skeletal development.
Organism species: Homo sapiens (Human)
Organism species: Mus musculus (Mouse)
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPB091Ra01 | Recombinant Alkaline Phosphatase, Tissue-nonspecific (ALPL) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAB091Ra01 | Polyclonal Antibody to Alkaline Phosphatase, Tissue-nonspecific (ALPL) | WB; IHC; ICC; IP. |
MAB091Ra21 | Monoclonal Antibody to Alkaline Phosphatase, Tissue-nonspecific (ALPL) | WB; IHC; ICC; IP. | |
Assay Kits | SEB091Ra | ELISA Kit for Alkaline Phosphatase, Tissue-nonspecific (ALPL) | Enzyme-linked immunosorbent assay for Antigen Detection. |
SCB091Ra | CLIA Kit for Alkaline Phosphatase, Tissue-nonspecific (ALPL) | Chemiluminescent immunoassay for Antigen Detection. |
Organism species: Oryctolagus cuniculus (Rabbit)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Alkaline Phosphatase, Tissue-nonspecific (ALPL) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Alkaline Phosphatase, Tissue-nonspecific (ALPL) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Alkaline Phosphatase, Tissue-nonspecific (ALPL) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | SEB091Rb | ELISA Kit for Alkaline Phosphatase, Tissue-nonspecific (ALPL) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Bos taurus; Bovine (Cattle)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPB091Bo01 | Recombinant Alkaline Phosphatase, Tissue-nonspecific (ALPL) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAB091Bo01 | Polyclonal Antibody to Alkaline Phosphatase, Tissue-nonspecific (ALPL) | WB; IHC; ICC; IP. |
Assay Kits | n/a | CLIA Kit for Alkaline Phosphatase, Tissue-nonspecific (ALPL) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Alkaline Phosphatase, Tissue-nonspecific (ALPL) | ELISA Kit Customized Service Offer |
- "Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase."Proc. Natl. Acad. Sci. U.S.A. 83:7182-7186(1986) [PubMed] [Europe PMC] [Abstract]
- "Structure of the human liver/bone/kidney alkaline phosphatase gene."J. Biol. Chem. 263:12002-12010(1988) [PubMed] [Europe PMC] [Abstract]
- "Nucleotide sequence of the human liver-type alkaline phosphatase cDNA."Nucleic Acids Res. 17:2129-2129(1989) [PubMed] [Europe PMC] [Abstract]
- "A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia."J. Hum. Genet. 43:160-164(1998) [PubMed] [Europe PMC] [Abstract]
- "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
- "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]
- "Human liver alkaline phosphatase, purification and partial sequencing: homology with the placental isozyme."Arch. Biochem. Biophys. 245:331-337(1986) [PubMed] [Europe PMC] [Abstract]
- "Chemical nature of intestinal-type alkaline phosphatase in human kidney."Clin. Chem. 38:2539-2542(1992) [PubMed] [Europe PMC] [Abstract]
- "Proteomic analysis of glycosylphosphatidylinositol-anchored membrane proteins."Mol. Cell. Proteomics 2:1261-1270(2003) [PubMed] [Europe PMC] [Abstract]
- "Modification-specific proteomics of plasma membrane proteins: identification and characterization of glycosylphosphatidylinositol-anchored proteins released upon phospholipase D treatment."J. Proteome Res. 5:935-943(2006) [PubMed] [Europe PMC] [Abstract]
- "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
- "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
- "A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia."Proc. Natl. Acad. Sci. U.S.A. 85:7666-7669(1988) [PubMed] [Europe PMC] [Abstract]
- "Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia."Proc. Natl. Acad. Sci. U.S.A. 89:9924-9928(1992) [PubMed] [Europe PMC] [Abstract]
- "A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites."Genomics 17:215-217(1993) [PubMed] [Europe PMC] [Abstract]
- "Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia."Hum. Mol. Genet. 3:1683-1684(1994) [PubMed] [Europe PMC] [Abstract]
- "Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia."J. Clin. Endocrinol. Metab. 81:4458-4461(1996) [PubMed] [Europe PMC] [Abstract]
- "Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia."Eur. J. Hum. Genet. 6:308-314(1998) [PubMed] [Europe PMC] [Abstract]
- "Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients."Hum. Mutat. Suppl. 1:S263-S267(1998) [PubMed] [Europe PMC] [Abstract]
- "Correlations of genotype and phenotype in hypophosphatasia."Hum. Mol. Genet. 8:1039-1046(1999) [PubMed] [Europe PMC] [Abstract]
- "Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia."Hum. Mutat. 13:171-172(1999) [PubMed] [Europe PMC] [Abstract]
- "Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene."Eur. J. Pediatr. 159:375-379(2000) [PubMed] [Europe PMC] [Abstract]
- "Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia." Hum. Mutat. 15:293-293(2000) [PubMed] [Europe PMC] [Abstract]
- "Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme."J. Clin. Endocrinol. Metab. 85:743-747(2000) [PubMed] [Europe PMC] [Abstract]
- "Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene."Am. J. Med. Genet. 103:235-240(2001) [PubMed] [Europe PMC] [Abstract]
- "A molecular approach to dominance in hypophosphatasia."Hum. Genet. 109:99-108(2001) [PubMed] [Europe PMC] [Abstract]
- "Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia."Hum. Mutat. 18:83-84(2001) [PubMed] [Europe PMC] [Abstract]
- "Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia."J. Bone Miner. Res. 16:2313-2319(2001) [PubMed] [Europe PMC] [Abstract]
- "A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia."Oral Dis. 7:331-335(2001) [PubMed] [Europe PMC] [Abstract]
- "Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions."J. Inherit. Metab. Dis. 25:35-40(2002) [PubMed] [Europe PMC] [Abstract]
- "Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia."Mol. Genet. Metab. 75:143-153(2002) [PubMed] [Europe PMC] [Abstract]
- "Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene."Hum. Mutat. 22:105-106(2003) [PubMed] [Europe PMC] [Abstract]
- "Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene."J. Med. Genet. 40:605-609(2003) [PubMed] [Europe PMC] [Abstract]
- "Childhood hypophosphatasia: a case report due to a novel mutation."Arch. Pediatr. 11:440-443(2004) [PubMed] [Europe PMC] [Abstract]
- "Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations."Mol. Genet. Metab. 84:273-277(2005) [PubMed] [Europe PMC] [Abstract]