LP61619-0
BCS1L gene
Active
Description
The BCS1L gene (BC1 (ubiquinol-cytochrome c reductase) synthesis-like) [HGNC Gene ID:1020] is located on chromosome 2q33. This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012] [NCBI Gene ID:617] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- BCS1L gene
- Part Display Name
- BCS1L gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-11-10
- Construct for LOINC Short Name
- BCS1L gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP61619-0 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP61619-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BCS1L 基因 Synonyms: BCS; |
| es-ES | Spanish (Spain) | Gen BCS1L |
| it-IT | Italian (Italy) | BCS1L, gene Synonyms: Gene BCS1L |
| et-EE | Estonian (Estonia) | BCS1L geen |
| tr-TR | Turkish (Turkey) | BCS1L geni |
| ru-RU | Russian (Russian Federation) | BCS1L ген |
| nl-NL | Dutch (Netherlands) | BCS1L-gen Synonyms: BCS1L gen |
| el-GR | Greek (Greece) | Γονίδιο BCS1L Synonyms: Γονίδιο BCS1L |
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