LP186036-2
Phosphomannomutase 2
Active
Description
Phosphomannomutase 2 (PMM2) is involved in the synthesis of GDP-mannose from mannose-1-phosphate. It is encoded by the PMM2 gene, which is located on chromosome 16p13.2. PMM2 enzyme deficiency is the cause of congenital disorder of glycosylation type Ia (CDG Ia, also known as Jaeken syndrome), an autosomal recessive disorder that presents in the neonatal period and is characterized by hypotonia, seizures, significant cognitive delay, encephalopathy, cardiomyopathy, liver insufficiency and hypogonadism. Twenty percent of affected patients die by the age of 2. [OMIM: 212065] Source: Regenstrief LOINC, OMIM: 212065
Basic Part Properties
- Part Name
- Phosphomannomutase 2
- Part Display Name
- Phosphomannomutase 2
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-10-02
- Construct for LOINC Short Name
- PMM2
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 磷酸甘露糖变位酶 2 Synonyms: 甘露糖磷酸变位酶 2; |
| es-ES | Spanish (Spain) | Fosfomanomutasa 2 |
| it-IT | Italian (Italy) | Phosphomannomutase 2 |
| tr-TR | Turkish (Turkey) | Fosfomannomutaz 2 |
| nl-NL | Dutch (Netherlands) | fosfomannomutase 2 |
| fr-FR | French (France) | Phosphomannomutase 2 |
| el-GR | Greek (Greece) | Φωσφομαννομουτάση 2 Synonyms: Φωσφομαννομουτάση 2 |
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://