LP36624-2
SURF1 gene
Active
Description
The SURF1 gene (surfeit 1) [HGNC Gene ID:11474] is located on chromosome 9q34.2. This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6834] 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
- SURF1 gene
- Part Display Name
- SURF1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-02-16
- Construct for LOINC Short Name
- SURF1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SURF1 基因 Synonyms: Leigh 综合征; |
| et-EE | Estonian (Estonia) | SURF1 geen |
| es-ES | Spanish (Spain) | Gen SURF1 |
| it-IT | Italian (Italy) | SURF1, gene Synonyms: Gene SURF1 |
| tr-TR | Turkish (Turkey) | SURF1 geni |
| ru-RU | Russian (Russian Federation) | SURF1 ген |
| nl-NL | Dutch (Netherlands) | SURF1-gen Synonyms: SURF1 gen |
| fr-FR | French (France) | SURF1 gène |
| pl-PL | Polish (Poland) | SURF1 gen Synonyms: Gen SURF1 |
| el-GR | Greek (Greece) | Γονίδιο SURF1 Synonyms: Γονίδιο SURF1 |
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://