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Gene : PITPNM3 Homo sapiens

Name  ? PITPNM family member 3 Cytological Location  17p13.2-p13.1
Brief Description  PITPNM family member 3
Description  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]
  • synonyms:
  • OTTHUMG00000102039,
  • RDGBA3,
  • ACKR6,
  • atypical chemokine receptor 6,
  • HGNC:21043,
  • ACKR6,
  • uc002gdd.5,
  • CORD5,
  • NIR1,
  • RDGBA3,
  • PITPNM3,
  • cone rod dystrophy 5,
  • NM_031220,
  • CORD5,
  • AF334586,
  • NIR1
  • identifiers:
  • 83394,
  • ENSG00000091622,
  • PITPNM3

Genome feature

Region: gene ? Length: 105293  
Location: 17:6451263-6556555 reverse strand Cyto location: 17p13.2-p13.1


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Disease

1 Diseases

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Expression

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3756 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results