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 51 - 60 of 77 in total
HPO ID HPO Term
HP:0003577 Congenital onset
HP:0003584 Late onset
HP:0003596 Middle age onset
HP:0003819 Death in childhood
HP:0003829 Typified by incomplete penetrance
HP:0007256 Abnormal pyramidal sign
HP:0007401 Macular atrophy
HP:0007479 Congenital nonbullous ichthyosiform erythroderma
HP:0007543 Epidermal hyperkeratosis
HP:0007663 Reduced visual acuity
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024