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FLASH GENE

Symbol

PHGDH

contributors: mct - updated : 18-06-2016

HGNC name	phosphoglycerate dehydrogenase
HGNC id	8923

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PHGDH , NELAS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in leukemia, lymphoma and carcinoma constitutional     --other   in cycling endometrial tissue, is relatively high in the proliferative phase in glandular cells and lower in the secretory phase constitutional   deletion     L-serine deficiency caused by its deletion leads to robust induction of EIF4EBP1 and subsequent repression of translation initiation in the developing central nervous system

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	impaired neurogenesis in embryonic spinal cord of Phgdh knockout mice, a serine deficiency disorder model
	severe impairment in neurogenesis of the central nervous system of Phgdh knockout (KO) embryos and a reduction in the protein content of their brains