Gene: DEGS1

Alternate names for this Gene: DEGS|DEGS-1|DES1|Des-1|FADS7|HLD18|MIG15|MLD

Gene Summary: This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.11

Description of this Gene: delta 4-desaturase, sphingolipid 1

Type of Gene: protein-coding

rs768180196 in DEGS1 gene and Leukodystrophy PMID 31186544 2019 DEGS1 variant causes neurological disorder.

rs6673347 in DEGS1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.