The C-terminal di-lysine motif confers endoplasmic reticulum localization.
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Lipid metabolism; fatty acid biosynthesis.
N-glycosylated.
Belongs to the ELO family. ELOVL4 subfamily.
Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates.
Proteins
36829Da
We found 2 products in 2 categories
ab224608
ab159600