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GENE INFORMATION

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Gene name

PNPLA6 (HGNC Symbol)

Synonyms

iPLA2delta, NTE, sws

Description

patatin-like phospholipase domain containing 6 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

19 (Chromosome progress)

Cytoband

p13.2

Chromosome location (bp)

7599038 - 7626653

Ensembl

ENSG00000032444 (version 69.37)

Entrez gene

10908

UniProt

Q8IY17

neXtProt

NX_Q8IY17

Antibodypedia

PNPLA6 antibodies
 

PROTEIN VIEW

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PNPLA6-201
 
PNPLA6-202
 
PNPLA6-203
 
PNPLA6-204
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNPLA6-201 ENSP00000221249
ENST00000221249
Q8IY17
Show all »
Show » Show » 1327 146.2 No 1
PNPLA6-202 ENSP00000407509
ENST00000414982
Q8IY17
Show all »
Show » Show » 1375 151 No 1
PNPLA6-203 ENSP00000394348
ENST00000450331
Q8IY17
Show all »
Show » Show » 1327 146.2 No 1
PNPLA6-204 ENSP00000443323
ENST00000545201
F5H5K9
Show all »
Show » Show » 1300 143.4 No 1