LP200136-2
D-3-phosphoglycerate dehydrogenase
Active
Description
D-3-phosphoglycerate dehydrogenase (3-PGDH) is encoded by the PHGDH gene, located on chromosome 1p12, and functions as part of the L-serine biosynthesis pathway to catalyze the conversion of 3-phospho-D-glycerate to 3-phosphohydroxypyruvate. Defects in the PHGDH gene are associated with two disorders: phosphoglycerate dehydrogenase(PGDH) deficiency and Neu-Laxova syndrome 1 (NLS1). PGDH deficiency is associated with congenital microcephaly, psychomotor retardation, and seizures. NLS1 is a lethal, autosomal recessive syndrome associated with ichthyosis, marked intrauterine growth restriction, microcephaly, hypoplastic lungs and central nervous system anomalies. [UniProt: O43175] Antibodies to 3-PGDH are detected in patients with chronic liver diseases, primiarily autoimmune hepatitis (AIH). PMID: 21707887 Source: Regenstrief LOINC, UniProt: O43175
Basic Part Properties
- Part Display Name
- D-3-phosphoglycerate dehydrogenase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-08-25
- Construct for LOINC Short Name
- 3-PGDH
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | D-3-磷酸甘油酸脱氢酶 |
| es-ES | Spanish (Spain) | D-3-fosfoglicerato deshidrogenasa |
| it-IT | Italian (Italy) | D-3-deidrogenasi fosfoglicerato |
| tr-TR | Turkish (Turkey) | D-3-fosfogliserat dehidrojenaz |
| nl-NL | Dutch (Netherlands) | D-3-fosfoglyceraat-dehydrogenase |
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