ELOVL7

ELOVL Fatty Acid Elongase 7

Gene Information Card

Symbol ELOVL7
Full Name ELOVL Fatty Acid Elongase 7
Gene Type protein-coding
Chromosomal Location 5q11.2
NCBI Gene ID 79993 ncbi.nlm.nih.gov/gene/79993
Ensembl ID ENSG00000164172
UniProt ID Q9NPA0
OMIM ID 611292
HGNC ID 26293
Aliases ELOVL7, FLJ23584, MGC45871

Description

ELOVL7 (ELOVL Fatty Acid Elongase 7) is a protein-coding gene that encodes a member of the ELOVL family of elongases, which are involved in the biosynthesis of very long-chain fatty acids (VLCFAs). The enzyme catalyzes the condensation reaction in the elongation cycle of fatty acids, specifically contributing to the production of saturated and monounsaturated VLCFAs. ELOVL7 is expressed in various tissues and has been implicated in lipid metabolism, cancer cell proliferation, and metabolic disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate Cancer Overexpression of ELOVL7 promotes lipid synthesis and cell proliferation in prostate cancer cells. PMID: 25218425
Colorectal Cancer ELOVL7 upregulation is associated with poor prognosis and may drive tumor growth through altered fatty acid metabolism. PMID: 29367608
Metabolic Syndrome Variants in ELOVL7 are linked to altered lipid profiles and risk of metabolic syndrome. PMID: 21785165

Expression Profile

Tissue Expression
Tissue nTPM level
Adipose tissue 12.5 Medium
Liver 8.3 Low
Prostate 15.2 Medium
Colon 10.1 Medium
Brain 5.4 Low
Cell Line Expression
Cell Line nTPM Notes
LNCaP (prostate cancer) 18.7 High expression
HCT116 (colorectal cancer) 14.3 Moderate expression
HepG2 (liver cancer) 7.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.101C>T (p.Thr34Met) Missense 0.01% (gnomAD) Unknown functional impact
c.457G>A (p.Val153Ile) Missense 0.02% (gnomAD) Possibly benign
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Gene Ontology (GO)

fatty acid elongase activity (GO:0009922) fatty acid biosynthetic process (GO:0006633)
• integral component of membrane (GO:0016021) endoplasmic reticulum (GO:0005783)

Pathways

Fatty acid elongation (Reactome: R-HSA-2046106)
Sphingolipid metabolism (KEGG: hsa00600)

Protein Summary

ELOVL7 is a 281-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a fatty acid elongase, catalyzing the first and rate-limiting step of the elongation cycle: condensation of malonyl-CoA with a long-chain fatty acyl-CoA. The enzyme is specific for saturated and monounsaturated substrates with chain lengths of C16-C18. ELOVL7 is highly expressed in prostate and colon tissues and is upregulated in several cancers, where it supports membrane synthesis and signaling lipid production.

Related Products

Product name Cat.No. Species Gene ID
ELOVL7 Knockout HEK293 Cell Line EDJ-KQ13280 Human 79993 Details Get a Quote
ELOVL7 Knockout A-549 Cell Line EDJ-KQ41475 Human 79993 Details Get a Quote
ELOVL7 Knockout HCT 116 Cell Line EDJ-KQ42702 Human 79993 Details Get a Quote
ELOVL7 Knockout HeLa Cell Line EDJ-KQ57274 Human 79993 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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