LP417408-4
MMADHC gene
Active
Description
The MMADHC gene (metabolism of cobalamin associated D) [HGNC Gene ID:25221] is located on chromosome 2q23.2. This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] [NCBI Gene ID:27249] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- MMADHC gene
- Part Display Name
- MMADHC gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-01-13
- Construct for LOINC Short Name
- MMADHC
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | MMADHC-gen MMADHC-gen |
| zh-CN | Chinese (China) | MMADHC 基因 Synonyms: Metabolism Of Cobalamin Associated D gene; |
| fr-FR | French (France) | MMADHC gène |
| it-IT | Italian (Italy) | MMADHC, gene |
| es-ES | Spanish (Spain) | Gen MMADHC |
| pl-PL | Polish (Poland) | MMADHC gen Synonyms: Gen MMADHC |
| el-GR | Greek (Greece) | Γονίδιο MMADHC Synonyms: Γονίδιο MMADHC |
LOINC Copyright
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