ELOVL4

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

Description

ELOVL fatty acid elongase 4

Tissue specificity

Tissue enhanced (lymphoid tissue, retina)

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

6 (79914814 - 79947553)

Ensembl ID

ENSG00000118402  (ver. 103.38)

Orthologs

Mouse Elovl4: ENSMUSG00000032262

UniProt

Q9GZR5

neXtProt

NX_Q9GZR5

Human splice variants
Mouse splice variants

Protein structure