LP208434-3
BCKDHB gene
Active
Description
The BCKDHB gene (branched chain keto acid dehydrogenase E1, beta polypeptide) [HGNC Gene ID:987] is located on chromosome 6q14.1. This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016] [NCBI Gene ID:594] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- BCKDHB gene
- Part Display Name
- BCKDHB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- BCKDHB
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BCKDHB 基因 Synonyms: 支链酮酸脱氢酶 E1, β多肽; |
| es-ES | Spanish (Spain) | Gen BCKDHB |
| it-IT | Italian (Italy) | BCKDHB, gene Synonyms: Gene BCKDHB |
| fr-FR | French (France) | BCKDHB gène |
| nl-NL | Dutch (Netherlands) | BCKDHB-gen |
| pl-PL | Polish (Poland) | BCKDHB gen Synonyms: Gen BCKDHB |
| el-GR | Greek (Greece) | Γονίδιο BCKDHB Synonyms: Γονίδιο BCKDHB |
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://