DISEASES

Disease-gene associations mined from literature

Literature associating C10orf2 and Baller-Gerold syndrome

C10orf2 [ENSP00000309595]

T7 gp4-like protein with intramitochondrial nucleoid localization; 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:  C10orf2,  C10orf2p,  hC10orf2,  C10ORF2,  C10ORF2-001 ...

Linkouts:  STRING  Pharos  UniProt