78982-6
D-3-phosphoglycerate dehydrogenase [Enzymatic activity/mass] in Fibroblast
Active
Part Description
LP200136-2 D-3-phosphoglycerate dehydrogenase
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
LOINC Names Get Info
- Fully-Specified Name
- D-3-phosphoglycerate dehydrogenase:
CCnt: Pt: Fibroblasts: Qn: - Long Common Name
- D-3-phosphoglycerate dehydrogenase [Enzymatic activity/mass] in Fibroblast
- Short Name
- 3-PGDH Fib-cCnt
- Display Name
- D-3-phosphoglycerate dehydrogenase (Fibroblast) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- D-3-phosphoglycerate dehydrogenase, Fibroblast
Part Model Get Info
- Component
- D-3-phosphoglycerate dehydrogenase
LP200136-2
- Analyte
- D-3-phosphoglycerate dehydrogenase
LP200136-2
- Component Numerator
- D-3-phosphoglycerate dehydrogenase
LP200136-2
- Component Numerator Core
- D-3-phosphoglycerate dehydrogenase
LP200136-2
- Component Numerator Core Suffix
- NULL
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- CCnt
LP6790-2
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Fibroblasts
LP7234-0
- System Core
- Fibroblasts
LP7234-0
- Super System
- NULL
- Scale
- Qn
LP7753-9
- Method
- NULL
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54 (MIN)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | D-3-fosfoglycerátdehydrogenáza: |
| el-GR | Greek (Greece) | D-3-φωσφογλυκερική αφυδρογονάση: Synonyms: CCnt CHEM D D-3-φωσφογλυκερική αφυδρογονάση Pt Qn Ινοβλάστες |
| es-ES | Spanish (Spain) | D-3-fosfoglicerato deshidrogenasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | D-3-fosfoglicerato deshidrogenasa: |
| fr-FR | French (France) | D-3-phosphoglycérate déshydrogénase: |
| it-IT | Italian (Italy) | D-3-deidrogenasi fosfoglicerato: Synonyms: Chimica Contenuto Catalitico Fibroblasto Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | D-3-fosfoglyceraat-dehydrogenase: |
| pl-PL | Polish (Poland) | Dehydrogenaza D-3-fosfoglicerynianowa: |
| tr-TR | Turkish (Turkey) | D-3-fosfogliserat dehidrojenaz: |
| zh-CN | Chinese (China) | D-3-磷酸甘油酸脱氢酶: Synonyms: Ⅲ III Rh; |
Example Units
| Unit | Source |
|---|---|
| nmol/min/mg{protein} | Example UCUM Units |
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://