Chromosome 22 contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. 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. Translo-acations 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. The C22orf16 gene product has been provisionally designated CHCHD10 pending further characterization.
Subcellular Location:
Mitochondrion.
Similarity:
Contains 1 CHCH domain.
SWISS:
Q8WYQ3
Gene ID:
400916
Database links:
Entrez Gene: 400916 Human
SwissProt: Q8WYQ3 Human
Unigene: 66915 Human
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