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Gene : PNPLA6 Homo sapiens

Name  ? patatin like phospholipase domain containing 6 Cytological Location  19p13.2
Brief Description  patatin like phospholipase domain containing 6
Description  This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
  • synonyms:
  • SPG39,
  • sws,
  • AJ004832,
  • iPLA2delta,
  • iPLA2delta,
  • PNPLA6,
  • SPG39,
  • NTEMND,
  • sws,
  • NTE,
  • OMCS,
  • NM_006702,
  • neuropathy target esterase,
  • uc002mgq.3,
  • NTE,
  • LNMS,
  • patatin-like phospholipase domain containing 6,
  • BNHS,
  • OTTHUMG00000182094,
  • HGNC:16268
  • identifiers:
  • 10908,
  • ENSG00000032444,
  • PNPLA6

Genome feature

Region: gene ? Length: 27604  
Location: 19:7534164-7561767 Cyto location: 19p13.2


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Disease

4 Diseases

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Expression

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587 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results