GPD1 gene

glycerol-3-phosphate dehydrogenase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Mar 2012]

From NCBI Gene:

  • Hypertriglyceridemia, transient infantile

From UniProt:

Hypertriglyceridemia, transient infantile (HTGTI): An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. [MIM:614480]

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12

Molecular Location: base pairs 50,103,819 to 50,111,320 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12
  • GPD-C
  • GPDH-C
  • HTGTI