DEGS2

DEGS2
Identifiers
Aliases	DEGS2 , C14orf66, DES2, FADS8, delta(4)-desaturase, sphingolipid 2, delta 4-desaturase, sphingolipid 2
External IDs	OMIM: 610862 MGI: 1917309 HomoloGene: 23617 GeneCards: DEGS2
Gene location (Human)
Chr.	Chromosome 14 (human)
End	100,159,645 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	108,668,570 bp
RNA expression pattern
	Top expressed in
	skin of abdomen; ; bronchial epithelial cell; ; duodenum; ; pancreatic ductal cell; ; oocyte; ; nipple; ; vena cava; ; jejunal mucosa; ; vulva; ; body of stomach;
	Top expressed in
	crypt of lieberkuhn of small intestine; ; pyloric antrum; ; epithelium of stomach; ; duodenum; ; Paneth cell; ; ileum; ; jejunum; ; intestinal villus; ; mucous cell of stomach; ; left colon;
	More reference expression data
	n/a
Gene ontology
Molecular function	oxidoreductase activity ; sphingosine hydroxylase activity ; sphingolipid delta-4 desaturase activity ;
Cellular component	integral component of membrane ; endoplasmic reticulum membrane ; endoplasmic reticulum ; membrane ;
Biological process	sphingolipid biosynthetic process ; sphinganine metabolic process ; lipid metabolism ; ceramide biosynthetic process ;
	Sources:Amigo / QuickGO
Orthologs
	123099
	70059
	ENSG00000168350
	ENSMUSG00000021263
	Q6QHC5
	Q8R2F2
	NM_206918
	NM_001171002 ; NM_027299
	NP_996801
	NP_001164473 ; NP_081575
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated December 03, 2023

Delta(4)-desaturase, sphingolipid 2 is a protein that in humans is encoded by the DEGS2 gene.^[5]

Function

This gene encodes a bifunctional enzyme that is involved in the biosynthesis of sphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase.

Related Research Articles

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Lathosterol oxidase is a Δ7-sterol 5(6)-desaturase enzyme that in humans is encoded by the SC5D gene.

Fatty acid desaturase 1 is an enzyme that in humans is encoded by the FADS1 gene.

Prolyl 4-hydroxylase subunit alpha-1 is an enzyme that in humans is encoded by the P4HA1 gene.

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.

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Diacylglycerol kinase delta is an enzyme that in humans is encoded by the DGKD gene.

Serine/threonine-protein kinase 19 is an enzyme that in humans is encoded by the STK19 gene.

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CYP4A22 also known as fatty acid omega-hydroxylase is a protein which in humans is encoded by the CYP4A22 gene.

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.

Acyl-coA acyltransferase-related enzyme 2 required for viability is a protein that in humans is encoded by the ARV1 gene. It is involved in lipid trafficking. ARV1 is ubiquitously expressed in higher eukaryotes, and in Saccharomyces cerevisiae yeast, is required for viability. Arv1^-/- knockout mice display a phenotype with reduced white adipose and favorable blood lipid profiles on a chow diet. ARV1 is hypothesized to be involved in neurodevelopment, as a splice variant of ARV1 with a 40 amino acid truncation causes epileptic encephalopathy in infants.d Arv1^-/- mice corroborate this observation. In yeast knockouts, supplanting human ARV1 through plasmid transfection rescues cells from death.

Methylsterol monooxygenase 1 is a protein that in humans is encoded by the MSMO1 gene.

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000168350 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021263 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Delta(4)-desaturase, sphingolipid 2".

DEGS2

Contents

Function

Related Research Articles

References

Further reading