background:
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.
Similarity:
Belongs to the FAM211 family.
Contains 2 LRR (leucine-rich) repeats.
Database links:
Entrez Gene: 388886 Human
SwissProt: Q2VPJ9 Human
Unigene: 113314 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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