Application:IHC-P,IHC-F,IF
Reactivity: Rat (predicted: Human,Mouse,Rabbit,Dog,Horse)
KIAA1161 is a 714 amino acid protein that belongs to the glycosyl hydrolase 31 family and functions as a putative glucosidase. This single-pass type II membrane protein is post-translationally phosphorylated at serine 44 and glycosylated at amino acid positions 240 and 250. The gene encoding KIAA1161 maps to human chromosome 9, which consists of about 145 million bases, comprises approximately 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.