Description
Product Characteristics:
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 C6orf204 gene product has been provisionally designated C6orf204 pending further characterization.
Subcellular location: Cytoplasm
Synonyms: bA57K17.2, C6orf204, centrosomal protein 85 kDa-like, CE85L_HUMAN, Coiled-coil domain-containing protein C6orf204, NY-BR-15, RP11-57K17.2, Serologically defined breast cancer antigen NY-BR-15.
Target Information: The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]