Description
Product Characteristics:
C22orf36 is a 315 amino acid protein that contains two LRR (leucine-rich) repeats and exists as two alternatively spliced isoforms. C22orf36 is encoded by a gene located on human chromosome 22, which contains over 500 genes and about 49 million bases. As the second smallest human chromosome, chomosome 22 contains a wide variety of genes with numerous functions. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia.
Synonyms: C22orf36, Leucine-rich repeat-containing protein C22orf36, chromosome 22 open reading frame 36, LRC6X_HUMAN.
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