ELOVL4 (ELOVL fatty acid elongase 4)

2014-11-01  

Identity

HGNC
ELOVL4
LOCATION
6q14.1
LOCUSID
6785
ALIAS
ADMD,CT118,ISQMR,SCA34,STGD2,STGD3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6785
MIM: 605512
HGNC: 14415
Ensembl: ENSG00000118402

Variants:

dbSNP: 6785
ClinVar: 6785
TCGA: ENSG00000118402
COSMIC: ELOVL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118402ENST00000369816Q9GZR5

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Fatty acid elongationKEGGhsa00062
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGhsa_M00415
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGM00415
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Synthesis of very long-chain fatty acyl-CoAsREACTOMER-HSA-75876

References

Pubmed IDYearTitleCitations
366960302024Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.2
366960302024Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.2
364640752023ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.5
375929022023Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.3
364640752023ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.5
375929022023Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.3
336527622021Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.5
336556532021ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis.1
343335512021The expression of ELOVL4, repressed by MYCN, defines neuroblastoma patients with good outcome.12
346230432021Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.2
347254212021Increased VLCFA-lipids and ELOVL4 underlie neurodegeneration in frontotemporal dementia.7
336527622021Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.5
336556532021ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis.1
343335512021The expression of ELOVL4, repressed by MYCN, defines neuroblastoma patients with good outcome.12
346230432021Progressive 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/tumors-explorer/teaching-explorer/teaching-explorer/