DISEASES

Disease-gene associations mined from literature

TWNK disease associations

TWNK [ENSP00000309595]

Twinkle protein, mitochondrial; 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.

Synonyms:  TWNK,  A0A2R8Y4V4,  A0A2R8Y746,  A0A2R8Y8D3,  A0A2R8YF85 ...

Linkouts:  STRING  Pharos  UniProt