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This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol transfer activity and interacts with the protein tyrosine kinase PTK2B. The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: atypical chemokine receptor 6; cone rod dystrophy 5; Membrane-associated phosphatidylinositol transfer protein 3; MGC157740; MGC157741; NIR-1; Phosphatidylinositol transfer protein, membrane-associated 3; PITPnm 3; PITPNM family member 3; PYK2 N-terminal domain-interacting receptor 1; retinal degeneration B alpha 3
Gene Aliases: A330068P14Rik; ACKR6; AI848332; CORD5; Gm880; NIR1; PITPNM3; RDGBA3
UniProt ID: (Human) Q9BZ71, (Mouse) Q3UHE1
Entrez Gene ID: (Human) 83394, (Mouse) 327958, (Rat) 287467
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