DGAT1

{{Short description|Mammalian protein found in Homo sapiens}}

{{Infobox_gene}}

Diacylglycerol O-acyltransferase 1 is an enzyme that in humans is encoded by the DGAT1 gene.{{cite web | title = Entrez Gene: Diacylglycerol O-acyltransferase 1 | url = https://www.ncbi.nlm.nih.gov/gene/8694 | accessdate = 2016-08-28 }}

Function

This gene encodes a multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases.

{{cite journal | vauthors = Yen CL, Stone SJ, Koliwad S, Harris C, Farese RV | title = Thematic review series: glycerolipids. DGAT enzymes and triacylglycerol biosynthesis | journal = Journal of Lipid Research | volume = 49 | issue = 11 | pages = 2283–301 | year = 2008 | pmid = 18757836 | pmc = 3837458 | doi = 10.1194/jlr.R800018-JLR200 |doi-access=free }}{{cite journal | vauthors = Smith SJ, Cases S, Jensen DR, Chen HC, Sande E, Tow B, Sanan DA, Raber J, Eckel RH, Farese RV | title = Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat | journal = Nature Genetics | volume = 25 | issue = 1 | pages = 87–90 | date = May 2000 | pmid = 10802663 | doi = 10.1038/75651 | s2cid = 10043699 }} This enzyme is essential for lactation in mice, and mutations in this gene affect the composition and volume of milk produced by both cattle{{cite journal | vauthors = Grisart B, Coppieters W, Farnir F, Karim L, Ford C, Berzi P, Cambisano N, Mni M, Reid S, Simon P, Spelman R, Georges M, Snell R | title = Positional Candidate Cloning of a QTL in Dairy Cattle: Identification of a Missense Mutation in the Bovine DGAT1 Gene with Major Effect on Milk Yield and Composition | journal = Genome Research | volume = 12 | issue = 2 | pages = 222–31 | date = February 2002 | pmid = 11827942 | doi = 10.1101/gr.224202 | doi-access = free }} and goats.{{cite journal | vauthors = Martin P, Palhière I, Maroteau C, Bardou P, Canale-Tabet K, Sarry J, Woloszyn F, Bertrand-Michel J, Racke I, Besir H, Rupp R, Tosser-Klopp G | title = A genome scan for milk production traits in dairy goats reveals two new mutations in Dgat1 reducing milk fat content | journal = Scientific Reports | volume = 7 | issue = 1 | pages = 1872 | date = May 2017 | pmc = 5431851 | pmid = 28500343 | doi = 10.1038/s41598-017-02052-0 | bibcode = 2017NatSR...7.1872M }}

Without this gene activity, infants who have a mutation in this gene are incapable of breaking down fat. This lack of capability to break down fat causes diarrhea and vomiting which eventually causes FTT (Failure to Thrive) and need of TPN (Total Parenteral Nutrition) if not given correct formula. Further this will cause protein losing enteropathy and very low albumin.{{cite web |url=http://www.dgat1.org/ |title=Home |website=dgat1.org}}

See also

References

{{reflist}}

Further reading

{{refbegin}}

  • {{cite journal | vauthors = Ludwig EH, Mahley RW, Palaoglu E, Ozbayrakçi S, Balestra ME, Borecki IB, Innerarity TL, Farese RV | title = DGAT1 promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women | journal = Clinical Genetics | volume = 62 | issue = 1 | pages = 68–73 | date = July 2002 | pmid = 12123490 | doi = 10.1034/j.1399-0004.2002.620109.x| s2cid = 8893005 }}

{{refend}}

{{NLM content}}

Category:EC 2.3.1

{{gene-8-stub}}