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pitpnm3

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Official Full Name
PITPNM family member 3
Background
This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). 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.
Synonyms
PITPNM3; PITPNM family member 3; membrane-associated phosphatidylinositol transfer protein 3; NIR1; RDGBA3; CORD5; Membrane associated phosphatidylinositol transfer protein 3; MGC157740; MGC157741; NIR 1; Phosphatidylinositol transfer protein, membrane-associated 3; PITPnm 3; PITPNM; PYK2 N terminal domain interacting receptor 1; PYK2 N-terminal domain-interacting receptor 1; retinal degeneration B alpha 3; NIR-1

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