GAS2 Chromosome 11

Growth arrest specific 2
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]
Associated Conditions (2)
Hearing loss
autosomal recessive 125
Key Variants
RS1854010513
Pathogenic
Hearing loss, autosomal recessive 125, Hearing loss
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS1854010513 Health Risk Pathogenic Hearing loss, autosomal recessive 125, Hearing loss
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