GRAP Chromosome 17

GRB2 related adaptor protein
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000154016
Associated Conditions (2)
Hearing loss
autosomal recessive 114
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS370564476 Health Risk Likely pathogenic Hearing loss, autosomal recessive 114, Hearing loss
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