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]

ELOVL Fatty Acid Elongase 4

Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.

Fatty acid biosynthetic process Source: UniProtKB
Fatty acid elongation, monounsaturated fatty acid Source: GO_Central
Fatty acid elongation, polyunsaturated fatty acid Source: UniProtKB
Fatty acid elongation, saturated fatty acid Source: UniProtKB
Long-chain fatty-acyl-CoA biosynthetic process Source: UniProtKB-UniRule
Sphingolipid biosynthetic process Source: GO_Central
Unsaturated fatty acid biosynthetic process Source: UniProtKB-UniRule
Very long-chain fatty acid biosynthetic process Source: UniProtKB

Endoplasmic reticulum membrane

Stargardt disease 3 (STGD3):
A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR):
A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures.
Spinocerebellar ataxia 34 (SCA34):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis.

N-glycosylated.