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Phosphoglycerate dehydrogenase (PHGDH) is an enzyme that catalyzes two individual chemical reactions. 3-phosphoglyceric acid + NAD+ H+ H+ ...
Click to read more »dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young...
Click to read more »by homozygous or compound heterozygous mutations in one of three genes: PHGDH, PSAT1 and PSPH These genes are involved in the serine biosynthesis pathway...
Click to read more »ABHD5 Ichthyosis prematurity syndrome 608649 Autosomal recessive SLC27A4 Neu–Laxova syndrome 256520 616038 autosomal recessive PHGDH, PSAT1 and PSPH...
Click to read more »Wang, Qian; Liu, Ying; Lai, Luhua (2018-12-21). "Serine synthesis through PHGDH coordinates nucleotide levels by maintaining central carbon metabolism"...
Click to read more »(oral-facial-digital syndrome type 2) 252100 Neu–Laxova syndrome 256520 PHGDH, PSAT1, PSPH Opitz G/BBB syndrome 300000 MID1 Pallister–Hall syndrome 146510...
Click to read more »Q96EK2 12074 PHF23 HGNC:28428; Q9BUL5 12075 PHF24 HGNC:29180; Q9UPV7 12076 PHGDH HGNC:8923; O43175 12077 PHGR1 HGNC:37226; C9JFL3 12078 PHIP HGNC:15673;...
Click to read more »Pheochromocytoma; 171300; VHL Phosphoglycerate dehydrogenase deficiency; 601815; PHGDH Phosphoglycerate kinase 1 deficiency; 300653; PGK1 Phosphoribosylpyrophosphate...
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