ELOVL4

ELOVL fatty acid elongase 4

Ensembl:
ENSG00000118402
UniProt:
Q9GZR5
OMIM:
605512
Synonyms:
CT118, SCA34, STGD2, STGD3

Cilia effects upon perturbation of ELOVL4

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.19) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.86, ciliated=59.6%) PMID:26595381

Phenotypes

Mouse phenotype:
abnormal craniofacial morphology, decreased exploration in new environment, embryonic lethality prior to organogenesis
Human ciliopathy phenotype:
spinocerebellar ataxia type 34; congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome; Congenital ichthyosis - intellectual disability - spastic quadriplegia

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the ELOVL4 gene cause Spinocerebellar Ataxia (PMID: 26010696).