TBC1 Domain Family, Member 24 (TBC1D24)
TBC1D24 encodes a 553-amino acid protein. RT-PCR analysis showed TBC1D24 expression in multiple human tissues, with highest expression in brain, followed by testis, skeletal muscle, heart, kidney, lung, and liver. Tbc1d24 was expressed in the cortex and hippocampus of developing mouse brain, with increased expression during cortical development, particularly in the internal part of the cortical plate and in the subventricular zone. The deduced 595-amino acid protein contains a TBC domain, suggesting it is involved in cell signaling. RT-PCR ELISA detected low expression of TBC1D24 in all adult and fetal tissues examined except spleen, which showed no expression. Expression was moderate in amygdala and cerebellum and low in all other adult brain regions examined.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant TBC1 Domain Family, Member 24 (TBC1D24) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to TBC1 Domain Family, Member 24 (TBC1D24) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to TBC1 Domain Family, Member 24 (TBC1D24) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for TBC1 Domain Family, Member 24 (TBC1D24) CLIA Kit Customized Service Offer
n/a ELISA Kit for TBC1 Domain Family, Member 24 (TBC1D24) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant TBC1 Domain Family, Member 24 (TBC1D24) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to TBC1 Domain Family, Member 24 (TBC1D24) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to TBC1 Domain Family, Member 24 (TBC1D24) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for TBC1 Domain Family, Member 24 (TBC1D24) CLIA Kit Customized Service Offer
n/a ELISA Kit for TBC1 Domain Family, Member 24 (TBC1D24) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant TBC1 Domain Family, Member 24 (TBC1D24) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to TBC1 Domain Family, Member 24 (TBC1D24) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to TBC1 Domain Family, Member 24 (TBC1D24) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for TBC1 Domain Family, Member 24 (TBC1D24) CLIA Kit Customized Service Offer
n/a ELISA Kit for TBC1 Domain Family, Member 24 (TBC1D24) ELISA Kit Customized Service Offer
  1. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
  3. "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity."Genes Cells 14:41-52(2009) [PubMed] [Europe PMC] [Abstract]
  4. "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]
  5. "TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy."Am. J. Hum. Genet. 87:365-370(2010) [PubMed] [Europe PMC] [Abstract]
  6. "A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24."Am. J. Hum. Genet. 87:371-375(2010) [PubMed] [Europe PMC] [Abstract]
  7. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  8. "Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy."Hum. Mutat. 34:869-872(2013) [PubMed] [Europe PMC] [Abstract]
  9. "Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86." Am. J. Hum. Genet. 94:144-152(2014) [PubMed] [Europe PMC] [Abstract]
  10. "A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment."Hum. Mutat. 35:814-818(2014) [PubMed] [Europe PMC] [Abstract]
  11. "TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss."Hum. Mutat. 35:819-823(2014) [PubMed] [Europe PMC] [Abstract]
  12. "The genetic basis of DOORS syndrome: an exome-sequencing study." Lancet Neurol. 13:44-58(2014) [PubMed] [Europe PMC] [Abstract]