LP417384-7
BPGM gene
Active
Description
The BPGM gene (bisphosphoglycerate mutase) [HGNC Gene ID:1093] is located on chromosome 7q33. 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] [NCBI Gene ID:669] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- BPGM gene
- Part Display Name
- BPGM gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-01-13
- Construct for LOINC Short Name
- BPGM
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | BPGM-gen |
| zh-CN | Chinese (China) | BPGM 基因 Synonyms: 磷酸甘油酸变位酶基因; |
| fr-FR | French (France) | BPGM gène |
| it-IT | Italian (Italy) | BPGM, gene |
| es-ES | Spanish (Spain) | Gen BPGM |
| pl-PL | Polish (Poland) | BPGM gen Synonyms: Gen BPGM |
| el-GR | Greek (Greece) | Γονίδιο BPGM Synonyms: Γονίδιο BPGM |
LOINC Copyright
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