Neuropathy target esterase

PNPLA6
Identifiers
AliasesPNPLA6, BNHS, NTE, NTEMND, SPG39, iPLA2delta, sws, LNMS, OMCS, patatin like phospholipase domain containing 6
External IDsOMIM: 603197 MGI: 1354723 HomoloGene: 21333 GeneCards: PNPLA6
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006702
NM_001166111
NM_001166112
NM_001166113
NM_001166114

RefSeq (protein)

NP_001159583
NP_001159584
NP_001159585
NP_001159586
NP_006693

Location (UCSC)Chr 19: 7.53 – 7.56 MbChr 8: 3.57 – 3.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Neuropathy target esterase, also known as patatin-like phospholipase domain-containing protein 6 (PNPLA6), is an esterase enzyme that in humans is encoded by the PNPLA6 gene.[5][6][7][8]

Neuropathy target esterase is 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.[8]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000032444Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004565Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lush MJ, Li Y, Read DJ, Willis AC, Glynn P (Aug 1998). "Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein contain a novel domain conserved from bacteria to man". Biochem J. 332. ( Pt 1) (Pt 1): 1–4. doi:10.1042/bj3320001. PMC 1219444. PMID 9576844.
  6. ^ Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ (Aug 2006). "Characterization of the human patatin-like phospholipase family". J Lipid Res. 47 (9): 1940–9. doi:10.1194/jlr.M600185-JLR200. PMID 16799181.
  7. ^ Kienesberger PC, Oberer M, Lass A, Zechner R (Apr 2009). "Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions". J Lipid Res. 50 Suppl (Supplement): S63–8. doi:10.1194/jlr.R800082-JLR200. PMC 2674697. PMID 19029121.
  8. ^ a b "Entrez Gene: PNPLA6 patatin-like phospholipase domain containing 6".

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