LP186037-0
Mannose-6-phosphate isomerase
Active
Description
Mannose-6-phosphate isomerase, also known as phosphomannose isomerase, catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate. It is encoded by the MPI gene, which is located on chromosome 15q24.1. Mannose-6-phosphate isomerase deficiency is the cause of congenital disorder of glycosylation type Ib (CDG Ib), an autosomal recessive disorder characterized by chronic diarrhea with failure to thrive, protein-losing enteropathy, and coagulopathy. CDG Ib is different from the other CDGs in that it does not have significant central nervous system involvement. [OMIM: 602579] Source: Regenstrief LOINC, OMIM: 602579
Basic Part Properties
- Part Display Name
- Mannose-6-phosphate isomerase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-10-02
- Construct for LOINC Short Name
- M6PI
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 甘露糖-6-磷酸异构酶 Synonyms: 磷酸甘露糖异构酶; |
| es-ES | Spanish (Spain) | Manosa-6-fosfato isomerasa |
| it-IT | Italian (Italy) | Mannosio-6-fosfato isomerasi |
| tr-TR | Turkish (Turkey) | Mannoz-6-fosfat izomeraz |
| nl-NL | Dutch (Netherlands) | mannose-6-fosfaatisomerase |
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