background:
Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers, and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGFβ modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The C18orf54 gene product has been provisionally designated C18orf54 pending further characterization.
Function:
Might play a role in cell proliferation.
Subcellular Location:
Secreted.
Database links:
Entrez Gene: 162681 Human
Omim: 613258 Human
SwissProt: Q8IYD9 Human
Unigene: 208701 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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