LP417406-8
MMACHC gene
Active
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 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
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP417406-8 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP417406-8
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; |
| it-IT | Italian (Italy) | MMACHC, gene |
| es-ES | Spanish (Spain) | Gen MMACHC |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright