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Rabbit Anti-FAM50B antibody
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 FAM50B gene product has been provisionally designated FAM50B pending further characterization.
Tissue Specificity:
Widely expressed. Mostly abundant in testis and adult and fetal brain.
Similarity:
Belongs to the FAM50 family.
SWISS:
Q9Y247
Gene ID:
2648
Database links:
Entrez Gene: 2648 Human
SwissProt: Q9Y247 Human
Unigene: 140944 Human
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