Cytoplasmic glycerol-3-phosphate dehydrogenase
The GPD1 gene encodes an enzyme of triglyceride synthesis. Mutations cause autosomal recessive transient infantile hypertriglyceridemia. Also mutations can disturb both carbohydrate and lipid metabolism.
Genetests:
Related Diseases:
References:
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Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
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Hopkinson DA et al. (1974) Rare electrophoretic variants of glycerol-3-phosphate dehydrogenase: evidence for two structural gene loci (GPD1 and GPD2).
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3. |
Menaya J et al. (1995) Molecular cloning, sequencing and expression of a cDNA encoding a human liver NAD-dependent alpha-glycerol-3-phosphate dehydrogenase.
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Prasad R et al. (1997) Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
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Brown LJ et al. (2002) Lethal hypoglycemic ketosis and glyceroluria in mice lacking both the mitochondrial and the cytosolic glycerol phosphate dehydrogenases.
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6. |
Basel-Vanagaite L et al. (2012) Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
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7. |
Joshi M et al. (2014) A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
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8. |
Orphanet article
Orphanet ID 303828
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9. |
NCBI article
NCBI 2819
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10. |
OMIM.ORG article
Omim 138420
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Update: Aug. 14, 2020