Gene: GAB1

Alternate names for this Gene: DFNB26

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q31.21

Description of this Gene: GRB2 associated binding protein 1

Type of Gene: protein-coding

rs3805236 in GAB1 gene and Asthma PMID 21804548 2011 Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.

rs28989231 in GAB1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1553950635 in GAB1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 26 PMID 29408807 2018 Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.

rs300917 in GAB1 gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs11736775 in GAB1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs28925904 in GAB1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.