GAB1 Chromosome 4

GRB2 associated binding protein 1

2 variants 2 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"Pleckstrin homology domain containing|MicroRNA protein coding host genes"

Locus Type

gene with protein product

Location

4q31.21

Ensembl

ENSG00000109458

Associated Conditions (2)

15q14 microdeletion syndrome

Autosomal recessive nonsyndromic hearing loss 26

Key Variants

RS746261423

Conflicting classifications of pathogenicity

15q14 microdeletion syndrome, 15q14 microdeletion syndrome

Health Risk

RS1553950635

Pathogenic

Autosomal recessive nonsyndromic hearing loss 26, Autosomal recessive nonsyndromic hearing loss 26

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS746261423	Health Risk	Conflicting classifications of pathogenicity	15q14 microdeletion syndrome, 15q14 microdeletion syndrome
RS1553950635	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 26, Autosomal recessive nonsyndromic hearing loss 26