LP417406-8
MMACHC gene
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Description
The MMACHC gene (metabolism of cobalamin associated C) [HGNC Gene ID:24525] is located on chromosome 1p34.1. The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] [NCBI Gene ID:25974] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- MMACHC gene
- Part Display Name
- MMACHC gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-01-13
- Construct for LOINC Short Name
- MMACHC
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | MMACHC-gen MMADHC-gen |
| zh-CN | Chinese (China) | MMACHC 基因 Synonyms: Metabolism Of Cobalamin Associated C gene; |
| fr-FR | French (France) | MMACHC gène |
| it-IT | Italian (Italy) | MMACHC, gene |
| es-ES | Spanish (Spain) | Gen MMACHC |
| pl-PL | Polish (Poland) | MMACHC gen Synonyms: Gen MMACHC |
| el-GR | Greek (Greece) | Γονίδιο MMACHC Synonyms: Γονίδιο MMACHC |
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://