PNPLA6

patatin like domain 6, lysophospholipase

Ensembl:
ENSG00000032444
UniProt:
Q8IY17
OMIM:
603197
Synonyms:
IPLA2DELTA, NTE, SPG39, SWS

Cilia effects upon perturbation of PNPLA6

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.82) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Human ciliopathy phenotype:
ataxia-hypogonadism-choroidal dystrophy syndrome; Ataxia - hypogonadism - choroidal dystrophy

Ciliopathy associations

  • Laurence-Moon Syndrome
  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the PNPLA6 gene cause Laurence–Moon Syndrome (PMID: 25480986).