Description: Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA. RefSeq Summary (NM_022726): 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]. Transcript (Including UTRs) Position: hg19 chr6:80,624,529-80,657,315 Size: 32,787 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr6:80,626,325-80,656,996 Size: 30,672 Coding Exon Count: 6
ID:ELOV4_HUMAN DESCRIPTION: RecName: Full=Elongation of very long chain fatty acids protein 4; EC=2.3.1.199; AltName: Full=3-keto acyl-CoA synthase ELOVL4; AltName: Full=ELOVL fatty acid elongase 4; Short=ELOVL FA elongase 4; AltName: Full=Very-long-chain 3-oxoacyl-CoA synthase 4; FUNCTION: Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor- specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development. CATALYTIC ACTIVITY: A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2). SUBUNIT: Oligomer. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: 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. DOMAIN: The di-lysine motif may confer endoplasmic reticulum localization (By similarity). DISEASE: Defects in ELOVL4 are the cause of Stargardt disease type 3 (STGD3) [MIM:600110]. STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD3 inheritance is autosomal dominant. DISEASE: Defects in ELOVL4 are the cause of ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM:614457]. A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. SIMILARITY: Belongs to the ELO family. WEB RESOURCE: Name=Mutations of the ELOVL4 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/elovlmut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ELOVL4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9GZR5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
