ELOVL4 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ELOVL4 |
| Official Name | ELOVL fatty acid elongase 4 [Source:HGNC Symbol;Acc:HGNC:14415] |
| Ensembl ID | ENSG00000118402 |
| Bio databases IDs | |
| Aliases | ELOVL fatty acid elongase 4, cancer/testis antigen 118 |
| Synonyms | ADMD, CT118, ELOVL fatty acid elongase 4, ISQMR, SCA34, STGD2, STGD3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ELOVL4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GNS1/SUR4 family
- fatty acid elongase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight loss
- retinal dystrophy
- colorectal cancer
- small cell lung cancer
- Stargardt disease 3
- mental retardation
- ichthyosis, spastic quadriplegia, and mental retardation
- skin barrier defect
- syndromic ichthyosis
- psoriasis
regulates
- ceramide
- very long chain polyunsaturated fatty acid
- C28:0 ceramide
- 32:4n-6 fatty acid
- acyl-coenzyme A
- 3-oxoacyl-coenzyme A
- very long chain fatty acid
- malonyl-coenzyme A
- cerotic acid
- montanic acid
role in cell
- differentiation
- proliferation
- apoptosis
- migration
- abnormal morphology
- biosynthesis in
- degeneration
- electrophysiology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- perinuclear space
- photoreceptor inner segments
- membrane processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ELOVL4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- unsaturated fatty acid biosynthetic process
- detection of visible light
- long-chain fatty-acyl-CoA biosynthetic process
- very long-chain fatty acid biosynthetic process
- fatty acid elongation, saturated fatty acid
- fatty acid elongation, polyunsaturated fatty acid
- fatty acid biosynthetic process
- fatty acid elongation, monounsaturated fatty acid
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- G-protein coupled photoreceptor activity
- fatty acid elongase activity