GAB1 gene

GRB2 associated binding protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

From UniProt:

Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signaling pathway (PubMed:29408807).

From NCBI Gene:

  • Deafness, autosomal recessive 26

From UniProt:

Deafness, autosomal recessive, 26 (DFNB26): A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:605428]

Cytogenetic Location: 4q31.21, which is the long (q) arm of chromosome 4 at position 31.21

Molecular Location: base pairs 143,336,830 to 143,474,565 on chromosome 4 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 4q31.21, which is the long (q) arm of chromosome 4 at position 31.21
  • DFNB26