Identity
HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
CGI-88,IKSHD,Ssc1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64834
MIM: 611813
HGNC: 14418
Ensembl: ENSG00000066322
Variants:
dbSNP: 64834
ClinVar: 64834
TCGA: ENSG00000066322
COSMIC: ELOVL1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000066322 | ENST00000372458 | Q9BW60 |
| ENSG00000066322 | ENST00000413844 | Q9BW60 |
| ENSG00000066322 | ENST00000621943 | Q9BW60 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30487246 | 2019 | De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. | 25 |
| 30487246 | 2019 | De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. | 25 |
| 29496980 | 2018 | Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. | 19 |
| 29496980 | 2018 | Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. | 19 |
| 25499606 | 2015 | Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis. | 14 |
| 25499606 | 2015 | Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis. | 14 |
| 24489110 | 2014 | Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid. | 18 |
| 24489110 | 2014 | Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid. | 18 |
| 23538298 | 2013 | The equilibrium between long and very long chain ceramides is important for the fate of the cell and can be influenced by co-expression of CerS. | 34 |
| 23538298 | 2013 | The equilibrium between long and very long chain ceramides is important for the fate of the cell and can be influenced by co-expression of CerS. | 34 |
| 20166112 | 2010 | The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. | 67 |
| 20937905 | 2010 | ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. | 162 |
| 20166112 | 2010 | The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. | 67 |
| 20937905 | 2010 | ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. | 162 |
Citation
Dessen P
ELOVL1 (ELOVL fatty acid elongase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54281/elovl1-(elovl-fatty-acid-elongase-1)
