LP417400-1
HMBS gene
Active
Description
The HMBS gene (hydroxymethylbilane synthase) [HGNC Gene ID:4982] is located on chromosome 11q23.3. This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3145] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- HMBS gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-01-13
- Construct for LOINC Short Name
- HMBS
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP417400-1 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP417400-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HMBS 基因 Synonyms: 羟甲基胆色烷合酶基因; |
| nl-NL | Dutch (Netherlands) | HMBS-gen |
| it-IT | Italian (Italy) | HMBS, gene |
| es-ES | Spanish (Spain) | Gen HMBS |
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