Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf167 gene product has been provisionally designated C6orf167 pending further characterization.
Function:
Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA.
Subcellular Location:
Nucleus. Localizes to DNA damage sites, accumulates at stressed replication forks.
Similarity:
Belongs to the MMS22 family. MMS22L subfamily.
SWISS:
Q6ZRQ5
Gene ID:
253714
Database links:
Entrez Gene: 253714 Human
Entrez Gene: 212377 Mouse
SwissProt: Q6ZRQ5 Human
SwissProt: B1AUR6 Mouse
Unigene: 444292 Human
Unigene: 120919 Mouse
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