DEGS1

Official Full Name

delta 4-desaturase, sphingolipid 1

Organism

Homo sapiens

Gene ID

8560

Background

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. [provided by RefSeq, Mar 2010]

Synonyms

MLD; DEGS; DES1; Des-1; FADS7; HLD18; MIG15; DEGS-1

Cat.No.	Product Name	Price
CSC-DC004205	Panoply™ Human DEGS1 Knockdown Stable Cell Line	Inquiry
CSC-SC004205	Panoply™ Human DEGS1 Over-expressing Stable Cell Line	Inquiry
CSC-RT2876	Human DEGS1 KO Cell Line-HEK293T	Inquiry

Cat.No.	Product Name	Price
AD00151Z	Human DEGS1 adenoviral particles	Inquiry
AD04769Z	Human DEGS1 adenoviral particles	Inquiry
LV10582L	human DEGS1 (NM_003676) lentivirus particles	Inquiry

Cat.No.	Product Name	Price
SHH001071	shRNA set against Rat Degs1(NM_053323.2)	Inquiry
SHH276965	shRNA set against Rat DEGS1 (NM_053323.2)	Inquiry
SHG230161	shRNA set against Mouse Degs1(NM_007853.4)	Inquiry
SHH276957	shRNA set against Human DEGS1 (NM_003676.3)	Inquiry
SHH276961	shRNA set against Mouse DEGS1 (NM_007853.4)	Inquiry
SHW000879	shRNA set against Chicken DEGS1 (NM_001012565)	Inquiry
SHW017861	shRNA set against Danio rerio DEGS1 (NM_212700)	Inquiry

Cat.No.	Product Name	Price
CDFR013079	Rat Degs1 cDNA Clone(NM_053323.2)	Inquiry
MiUTR1M-03798	DEGS1 miRNA 3'UTR clone	Inquiry
MiUTR1R-01462	DEGS1 miRNA 3'UTR clone	Inquiry
MiUTR3H-14631	DEGS1 miRNA 3'UTR clone	Inquiry
CDCB162354	Chicken DEGS1 ORF Clone (NM_001012565)	Inquiry
CDCB179336	Danio rerio DEGS1 ORF Clone (NM_212700)	Inquiry
CDCB184699	Rabbit DEGS1 ORF clone (XM_008268365.1)	Inquiry
CDCH385300	Mouse DEGS1 ORF clone(NM_007853.4)	Inquiry
CDCR380126	Rat Degs1 ORF Clone(NM_053323.2)	Inquiry
CDCS411405	Human DEGS1 ORF Clone (BC000961)	Inquiry

Detailed Information

Sphingolipids play a critical role in human diseases ranging from neurodevelopmental disorders to cancer, and the enzyme dihydroceramide desaturase Δ4-dihydroceramide desaturase 1 (DEGS1) functions in the final step of the neoceramide biosynthesis, a link in the sphingolipid pathway. Defects in DEGS1 lead to the recently described myelodysplastic leukodystrophy-18 (HLD18).

Function of DEGS1

DEGS1 is a mitochondria-associated endoplasmic reticulum membrane-resident (MAM-resident) enzyme, completing previous reports that DEGS1 is located exclusively in the endoplasmic reticulum. 1 (dynamin-related protein 1) activation is reduced; (b) cholesterol metabolism, with impaired sterol O-acyltransferase activity and a reduction in cholesteryl esters; (c) phospholipid metabolism, with an increase in phosphatidic acid and phosphatidylserine and a decrease in phosphatidylethanolamine; and (d) lipid droplet biogenesis, with an increase in size and number of lipid droplets.

Impact on Sphingolipid Synthesis of DEGS1

The introduction of a double bond at the delta 4 position of the sphingolipid backbone by DEGS1 is a critical step in the synthesis of various sphingolipid species. Ceramides, for example, are synthesized from palmitoyl-CoA and sphingosine, and the desaturation reaction catalyzed by DEGS1 is necessary for the production of ceramides with a delta 4 double bond. Similarly, sphingomyelins are synthesized from ceramides, and the presence of a delta 4 double bond in the ceramide backbone is essential for the formation of sphingomyelins. Gangliosides, which are abundant in the brain and involved in cell signaling, are also synthesized from sphingolipids containing a delta 4 double bond. Therefore, DEGS1 plays a pivotal role in the production of these complex sphingolipids, which are crucial for cell function and membrane integrity.

Potential Impact of DEGS1 on Neurodegenerative Diseases

Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and Huntington's disease are associated with altered sphingolipid metabolism. For example, reduced ceramide levels have been observed in the brains of patients with Alzheimer's disease, suggesting that defects in ceramide synthesis may be part of the pathogenesis of this disease. Similarly, elevated levels of sphingolipids have been found in the brains of patients with Parkinson's disease, suggesting that altered sphingolipid metabolism may be involved in the pathogenesis of this disease. In addition, gangliosides have been implicated in the regulation of cell signaling pathways that are altered in various neurodegenerative diseases. Thus, DEGS1 may be a potential therapeutic target for the treatment of neurodegenerative diseases.

References:

Ternes P, Franke S, Zähringer U, Sperling P, Heinz E. Identification and characterization of a sphingolipid delta 4-desaturase family. J Biol Chem. 2002;277(28):25512-25518. doi:10.1074/jbc.M202947200
Blackburn NB, Michael LF, Meikle PJ, et al. Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway. J Lipid Res. 2019;60(9):1630-1639. doi:10.1194/jlr.P094433

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