PITPNM3 gene

PITPNM family member 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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.[provided by RefSeq, Sep 2009]

From UniProt:

Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cone-rod dystrophy 5

From UniProt:

Cone-rod dystrophy 5 (CORD5): An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. [MIM:600977]

Cytogenetic Location: 17p13, which is the short (p) arm of chromosome 17 at position 13

Molecular Location: base pairs 6,451,263 to 6,556,557 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13, which is the short (p) arm of chromosome 17 at position 13
  • ACKR6
  • CORD5
  • NIR1
  • RDGBA3