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 11 - 20 of 79 in total
DO ID Disease Name Source
DOID:0050981 spinocerebellar ataxia type 34
DOID:0060319 cardiac arrest
DOID:0060320 inguinal hernia
DOID:0060655 autosomal recessive congenital ichthyosis
DOID:0060656 autosomal recessive congenital ichthyosis 1
DOID:0110384 retinitis pigmentosa 25
DOID:0110406 retinitis pigmentosa 30
DOID:0110870 congenital stationary night blindness 1A
DOID:0111005 cone-rod dystrophy 2
DOID:0111012 cone-rod dystrophy 7
The Human Phenotype Ontology
Displaying entries 31 - 40 of 77 in total
HPO ID HPO Term
HP:0001288 Gait disturbance
HP:0001347 Hyperreflexia
HP:0001510 Growth delay
HP:0002066 Gait ataxia
HP:0002070 Limb ataxia
HP:0002073 Progressive cerebellar ataxia
HP:0002075 Dysdiadochokinesis
HP:0002080 Intention tremor
HP:0002099 Asthma
HP:0002120 Cerebral cortical atrophy
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