full name
twinkle mtDNA helicase

synonyms
ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL, C10orf2, TWNK, ENSG00000107815

HGNC
HGNC:1160

Entrez Gene
Gene:56652

ENSEMBL
ENSG00000107815

location
chr: 10
start: 102747293
stop: 102754159
strand: +

OMIM
OMIM:606075: TWNK (Autosomal recessive inheritance)
OMIM:271245: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
OMIM:616138: Perrault syndrome 5
OMIM:609286: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

transcripts
NM_001163812.1
NM_021830.4
NM_001163814.1
NM_001163813.1

pathways
Mitochondrial biogenesis [NCBI:1268839] [REACTOME:R-HSA-1592230] [PUBMED:18430751] [PUBMED:19262508] [PUBMED:22265687] [PUBMED:20533901] [PUBMED:20933024] [PUBMED:21757760] [PUBMED:19575678] [PUBMED:19008463] [PUBMED:21629705] [PUBMED:21543634] [PUBMED:22817841] [PUBMED:20649548] [PUBMED:22146081] [PUBMED:19276888] [PUBMED:19682549] [PUBMED:15744310] [PUBMED:19076454]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]
Transcriptional activation of mitochondrial biogenesis [NCBI:1268841] [REACTOME:R-HSA-2151201] [PUBMED:22265687] [PUBMED:20933024] [PUBMED:19575678] [PUBMED:22817841] [PUBMED:19682549]