GPRASP1 Chromosome X

G protein-coupled receptor associated sorting protein 1
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Armadillo repeat containing
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000198932
Associated Conditions (1)
GPRASP1-related disorder
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS200940188 Health Risk Conflicting classifications of pathogenicity GPRASP1-related disorder, GPRASP1-related disorder
RS202020063 Health Risk Conflicting classifications of pathogenicity
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