C10orf2

GENE INFORMATION

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Gene name

C10orf2 (HGNC Symbol)

Synonyms

FLJ21832, IOSCA, PEO, PEO1, TWINKLE, TWINL

Description

Chromosome 10 open reading frame 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

10

Cytoband

q24.31

Chromosome location (bp)

100987367 - 100994401

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000107815 (version 78.38)

Entrez gene

56652

UniProt

Q96RR1 (UniProt - Evidence at protein level)

neXtProt

NX_Q96RR1

Antibodypedia

C10orf2 antibodies
 

PROTEIN VIEW

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C10orf2-001
 
C10orf2-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

C10orf2-001 ENSP00000309595
ENST00000311916
Q96RR1
Show all »
Show » Show » 684 77.2 No 0
C10orf2-002 ENSP00000359248
ENST00000370228
Q96RR1
Show all »
Show » Show » 582 66 No 0