GPRASP3 Chromosome X

G protein-coupled receptor associated sorting protein family member 3
1 variant 1 Health Risk

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What This Gene Does
This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Armadillo repeat containing
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000198908
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS368463899 Health Risk Conflicting classifications of pathogenicity
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