LP208409-5
PMM2 gene
Active
Description
The PMM2 gene (phosphomannomutase 2) [HGNC Gene ID:9115] is located on chromosome 16p13. The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5373] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- PMM2 gene
- Part Display Name
- PMM2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- PMM2
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PMM2 基因 Synonyms: 磷酸甘露糖酶; |
| es-ES | Spanish (Spain) | Gen PMM2 |
| it-IT | Italian (Italy) | Gene PMM2 |
| nl-NL | Dutch (Netherlands) | PMM2-gen Synonyms: PMM2 gen |
| fr-FR | French (France) | PMM2 gène |
| pl-PL | Polish (Poland) | PMM2 gen Synonyms: Gen PMM2 |
| el-GR | Greek (Greece) | Γονίδιο PMM2 Synonyms: Γονίδιο PMM2 |
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://