LP15805-2
Phosphoglyceromutase
Active
Description
Phosphoglycerate mutase (PGM) is an enzyme that catalyzes step 8 of glycolysis. It catalyzes the internal transfer of a phosphate group from C-3 to C-2 which results in the conversion of 3-phosphoglycerate (3PG) to 2-phosphoglycerate (2PG) through a 2,3-bisphosphoglycerate intermediate.
In humans, deficiency in phosphoglycerate mutase function presents as a metabolic myopathy and is one of the many forms of syndromes formerly referred to as muscular dystrophy. Dysfunction in the activity of phosphoglycerate mutase is an autosomal recessive genetic disorder with symptoms ranging from mild to moderate, is not thought life-threatening and can be managed with changes in lifestyle.
Onset is generally noted as childhood to early adult though some who may be mildy affected by the disorder may not know they have it. The symptoms are an intolerance to physical exertion or activity, cramps and muscle pain. Uncommonly, myoglobinuria may be present. Permanent weakness is rare. The disease is not progressive and has an excellent prognosis.
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Source: Wikipedia
, Wikipedia
Basic Part Properties
- Part Name
- Phosphoglyceromutase
- Part Display Name
- Phosphoglyceromutase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- Phosphoglyceromutase
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 磷酸甘油变位酶 Synonyms: 磷酸甘油酸变位酶 |
| es-ES | Spanish (Spain) | Fosfoglicerol mutasa |
| it-IT | Italian (Italy) | Fosfogliceromutasi |
| et-EE | Estonian (Estonia) | Fosfoglütseromutaas |
| tr-TR | Turkish (Turkey) | Fosfogliseromutaz |
| ru-RU | Russian (Russian Federation) | Фосфоглицеромутаза |
| fr-BE | French (Belgium) | Phosphoglycéromutase |
| fr-CA | French (Canada) | Phosphoglycéromutase |
| nl-NL | Dutch (Netherlands) | fosfoglyceromutase |
| el-GR | Greek (Greece) | Φωσφογλυκερομουτάση Synonyms: Φωσφογλυκερομουτάση |
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