Selected-GenAtlas references SOURCE GeneCards NCBI Gene Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol TWNK contributors: mct/npt - updated : 17-09-2015
HGNC name twinkle mtDNA helicase
HGNC id 1160
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a mitochondrial targeting sequence at the N terminus, primase-like domain, required for efficient binding to single-stranded DNA
  • a region involved in subunit interactions
  • a short linker region
  • a C-terminal DNA helicase domain, needed for hexamer formation
    • mono polymer hexamer
    HOMOLOGY
    interspecies homolog to murine Twinl
    homolog to phage T7 Gp4
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • DNA helicase required for replication of mitochondrial DNA
  • presumed to be critical for lifetime maintenance of human mitochondrial integrity
  • mt DNA helicase activity
  • playing a crucial role in the maintenance and/or function of specific affected neuronal subpopulations
  • nucleus-encoded human mitochondrial (mt)DNA helicase
  • strand annealing activity of C10orf2 may play a role in recombination-mediated replication initiation found in the mitochondria of mammalian brain and heart or in replication fork regression during repair of damaged DNA replication forks
  • a role of the DNA-binding site of C10orf2 in the observed DNA strand annealing activity
  • is the only replicative DNA helicase in mammalian mitochondria
  • is essential for nascent H-strand synthesis in the D-loop, thus showing that there is no separate DNA helicase responsible for replication of this region
    • CELLULAR PROCESS nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    text mt DNA integrity
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA recruits or is assembled with mtDNA at the inner membrane to form a replication platform
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PEO3 , IOSCA , PRLTS5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS