2017-5-4
英文名称 Anti-C6orf130
中文名称 6号染色体开放阅读框129抗体
别 名 C6orf130; OARD1_HUMAN; Chromosome 6 open reading frame 130; dJ34B21.3; O acetyl ADP ribose deacetylase C6orf130; Uncharacterized protein C6orf130.
详细介绍:
相关资料:
产品介绍 C6orf130 is a 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 C6orf130 gene product has been provisionally designated C6orf130 pending further characterization.
Function : Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Catalyzes the deacylation of O-acetyl-ADP-ribose, O-propionyl-ADP-ribose and O-butyryl-ADP-ribose, yielding ADP-ribose plus acetate, propionate and butyrate, respectively.
Similarity : Contains 1 Macro domain.
Database links : UniProtKB/Swiss-Prot: Q9Y530.2
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