| Gene Symbol |
C10orf2
|
| Entrez Gene |
56652
|
| Alt Symbol |
ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
chromosome 10 open reading frame 2
|
| Other Description |
T7 gp4-like protein with intramitochondrial nucleoid localization|T7 helicase-related protein with intramitochondrial nucleoid localization|T7-like mitochondrial DNA helicase|ataxin 8|mitochondrial twinkle protein|progressive external ophthalmoplegia 1 protein|twinkle protein, mitochondrial
|
| Swissprots |
Q96RR0 Q96RR1 Q6PJP5 Q6MZX2 B2CQL2
|
| Accessions |
ACB21043 ADP92014 ADP92015 ADP92016 ADP92017 ADP92018 ADP92019 ADP92020 ADP92021 ADP92022 ADP92023 ADP92024 ADP92025 ADP92026 ADP92027 ADP92028 ADP92029 ADP92030 ADP92031 ADP92032 ADP92033 ADP92034 ADP92035 ADP92036 ADP92037 ADP92038 ADP92039 ADP92040 ADP92041 ADP92042 ADP92043 ADP92044 ADP92045 ADP92046 ADP92047 ADP92048 ADP92049 ADP92050 ADP92051 ADP92052 ADP92053 EAW49793 EAW49794 Q96RR1 AF292004 AAK69558 AF292005 AAK69559 AK022959 AK025485 BAB15148 AK297068 BAG59589 AK308098 BC013349 AAH13349 BC033762 AAH33762 BG473173 BQ643363 BX640829 CAE45905 CB112401 DB090322 XM_011539974 XP_011538276 XM_011539975 XP_011538277 XR_945788 NM_001163812 NP_001157284 NM_001163813 NP_001157285 NM_001163814 NP_001157286 NM_021830 NP_068602
|
| Function |
Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals. {ECO:0000269|PubMed:15167897}.
|
| Subcellular Location |
Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:11431692}. Note=Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.
|
| Tissue Specificity |
High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43. {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:15509589}.
|