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. 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.
Subunit:
Homo- or heteromers.
Subcellular Location:
Secreted; extracellular space; extracellular matrix.
Similarity:
Contains 1 collagen-like domain.
Contains 1 EMI domain.
SWISS:
Q96A84
Gene ID:
129080
Database links:
Entrez Gene: 129080 Human
Entrez Gene: 140703 Mouse
Entrez Gene: 685462 Rat
Omim: 608926 Human
SwissProt: Q96A84 Human
SwissProt: Q91VF5 Mouse
Unigene: 289106 Human
Unigene: 168 Mouse
Unigene: 81507 Rat
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Paraformaldehyde-fixed, paraffin embedded (Mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Ki-67) Polyclonal Antibody, Unconjugated (SL14581R EMID1) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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