ELOVL fatty acid elongase 4

Summary
Gene Symbol
  • ELOVL4
Aliases
  • CT118
  • cancer/testis antigen 118
Organism
Homo sapiens (human)
External Links
NCBI Gene
6785
HGNC
14415
KEGG Gene ID
hsa:6785
PubChem
6785
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Endoplasmic reticulum
  • Fatty acid biosynthesis
  • Glycoprotein
  • Ichthyosis
  • Intellectual disability
  • Reference proteome
  • Spinocerebellar ataxia
  • Stargardt disease
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9GZR5
  • 3-keto acyl-CoA synthase ELOVL4
  • ELOVL fatty acid elongase 4
  • Elongation of very long chain fatty acids protein 4
  • Very long chain 3-ketoacyl-CoA synthase 4
  • Very long chain 3-oxoacyl-CoA synthase 4
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K10249
Name
elongation of very long chain fatty acids protein 4 [EC:2.3.1.199]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 79 in total
DO ID Disease Name Source
DOID:13912 acquired color blindness
DOID:1432 blindness
DOID:0050467 erythrokeratodermia variabilis
DOID:0050534 congenital stationary night blindness
DOID:0050572 cone-rod dystrophy
DOID:0050635 alternating hemiplegia of childhood
DOID:0050753 cerebellar ataxia
DOID:1441 autosomal dominant cerebellar ataxia
DOID:14501 Sjogren-Larsson syndrome
DOID:0050817 Stargardt disease
The Human Phenotype Ontology
Displaying entries 71 - 77 of 77 in total
HPO ID HPO Term
HP:0011462 Young adult onset
HP:0011507 Macular flecks
HP:0012444 Brain atrophy
HP:0012733 Macule
HP:0012736 Profound global developmental delay
HP:0100022 Abnormality of movement
HP:0200034 Papule
Displaying all 5 entries
Disease ID Disease Name
ORPHA:1955
  • spinocerebellar ataxia type 34
OMIM:133190
  • spinocerebellar ataxia type 34
OMIM:614457
  • congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OMIM:600110
  • Stargardt disease 3
ORPHA:827
  • Stargardt disease
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006755
Gene Name
ELOVL fatty acid elongase 4
Ortholog
Displaying entries 101 - 105 of 105 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
109098404 CYPCA58415
103729172 NANGA21985
116442178 CORMO19188
115609845 STRHB17005
108309868 CEBIM15378

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024