LP71444-1
C10orf2 gene
Active
Description
The C10orf2 gene (chromosome 10 open reading frame 2) [HGNC Gene ID:1160] is located on chromosome 10q24. This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009] [NCBI Gene ID:56652] 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
- C10orf2 gene
- Part Display Name
- C10orf2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- C10orf2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | C10orf2 基因 Synonyms: chromosome 10 open reading frame 2 Gene; |
| et-EE | Estonian (Estonia) | C10orf2 geen |
| es-ES | Spanish (Spain) | Gen C10orf 2 |
| it-IT | Italian (Italy) | C10orf2, gene Synonyms: Gene C10orf2 |
| tr-TR | Turkish (Turkey) | C10orf2 geni |
| ru-RU | Russian (Russian Federation) | C10orf2 ген |
| nl-NL | Dutch (Netherlands) | c10off2-gen Synonyms: c10off2 gen |
| fr-FR | French (France) | C10orf2 gène |
| pl-PL | Polish (Poland) | C10orf2 gen Synonyms: Gen C10orf2; |
| el-GR | Greek (Greece) | Γονίδιο C10orf2 Synonyms: Γονίδιο C10orf2 |
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://