Glycerol-3-phosphate dehydrogenase 1 explained

Glycerol-3-phosphate dehydrogenase 1 is an enzyme that is encoded by the GPD1 gene in humans.^[1]

Function

This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol 3-phosphate (G3P) and NAD+.

The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria.

Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Further reading

• Gudayol M, Vidal J, Usac EF, Morales A, Fabregat ME, Fernández-Checa JC, Novials A, Gomis R . Identification and functional analysis of mutations in FAD-binding domain of mitochondrial glycerophosphate dehydrogenase in caucasian patients with type 2 diabetes mellitus . Endocrine . 16 . 1 . 39–42 . 2001 . 11822825 . 10.1385/ENDO:16:1:39 . 30120853 .
• Swierczynski J, Zabrocka L, Goyke E, Raczynska S, Adamonis W, Sledzinski Z . Enhanced glycerol 3-phosphate dehydrogenase activity in adipose tissue of obese humans . Mol. Cell. Biochem. . 254 . 1–2 . 55–9 . 2003 . 14674682 . 10.1023/a:1027332523114. 25108711 .
• Ou X, Ji C, Han X, Zhao X, Li X, Mao Y, Wong LL, Bartlam M, Rao Z . Crystal structures of human glycerol 3-phosphate dehydrogenase 1 (GPD1) . J. Mol. Biol. . 357 . 3 . 858–69 . 2006 . 16460752 . 10.1016/j.jmb.2005.12.074 .
• Park JJ, Berggren JR, Hulver MW, Houmard JA, Hoffman EP . GRB14, GPD1, and GDF8 as potential network collaborators in weight loss-induced improvements in insulin action in human skeletal muscle . Physiol. Genomics . 27 . 2 . 114–21 . 2006 . 16849634 . 10.1152/physiolgenomics.00045.2006 .
• MacDonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG . Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes . Diabetologia . 52 . 6 . 1087–91 . 2009 . 19296078 . 2903059 . 10.1007/s00125-009-1319-6 .
• Krasnov GS, ((Oparina NIu)), Khankin SL, Mashkova TD, Ershov AN, Zatsepina OG, Karpov VL, Beresten' SF . [Colorectal cancer 2D-proteomics: identification of altered protein expression] . ru . Mol. Biol. (Mosk.) . 43 . 2 . 348–56 . 2009 . 19425502 . 10.1134/s0026893309020186. 30196165 .
• Guindalini C, Lee KS, Andersen ML, Santos-Silva R, Bittencourt LR, Tufik S . The influence of obstructive sleep apnea on the expression of glycerol-3-phosphate dehydrogenase 1 gene . Exp. Biol. Med. (Maywood) . 235 . 1 . 52–6 . 2010 . 20404019 . 10.1258/ebm.2009.009150 . 207194967 .
• Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R . Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1 . Am. J. Hum. Genet. . 90 . 1 . 49–60 . 2012 . 22226083 . 3257852 . 10.1016/j.ajhg.2011.11.028 .
• Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB . A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia . Eur. J. Hum. Genet. . 22 . 10 . 1229–32 . 2014 . 24549054 . 4169545 . 10.1038/ejhg.2014.8 .

Notes and References

1. Web site: Entrez Gene: Glycerol-3-phosphate dehydrogenase 1. 2017-03-23.