Identity
HGNC
LOCATION
6q14.1
LOCUSID
ALIAS
ADMD,CT118,ISQMR,SCA34,STGD2,STGD3
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: 6785
MIM: 605512
HGNC: 14415
Ensembl: ENSG00000118402
Variants:
dbSNP: 6785
ClinVar: 6785
TCGA: ENSG00000118402
COSMIC: ELOVL4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000118402 | ENST00000369816 | Q9GZR5 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36696030 | 2024 | Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34. | 2 |
| 36696030 | 2024 | Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34. | 2 |
| 36464075 | 2023 | ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis. | 5 |
| 37592902 | 2023 | Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis. | 3 |
| 36464075 | 2023 | ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis. | 5 |
| 37592902 | 2023 | Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis. | 3 |
| 33652762 | 2021 | Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. | 5 |
| 33655653 | 2021 | ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis. | 1 |
| 34333551 | 2021 | The expression of ELOVL4, repressed by MYCN, defines neuroblastoma patients with good outcome. | 12 |
| 34623043 | 2021 | Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family. | 2 |
| 34725421 | 2021 | Increased VLCFA-lipids and ELOVL4 underlie neurodegeneration in frontotemporal dementia. | 7 |
| 33652762 | 2021 | Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. | 5 |
| 33655653 | 2021 | ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis. | 1 |
| 34333551 | 2021 | The expression of ELOVL4, repressed by MYCN, defines neuroblastoma patients with good outcome. | 12 |
| 34623043 | 2021 | Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family. | 2 |
Citation
Dessen P
ELOVL4 (ELOVL fatty acid elongase 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62804/elovl4-(elovl-fatty-acid-elongase-4)
