ARHGAP11A Chromosome 15

Rho GTPase activating protein 11A
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]
Gene Info
Gene Group
Rho GTPase activating proteins
Locus Type
gene with protein product
Location
15q13.3
Ensembl
ENSG00000198826
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS555387669 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
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