PRPF38A (Pre-mRNA-splicing factor 38A) is a 312 amino acid nuclear protein that is likely required for pre-mRNA splicing. There are two isoforms of PRPF38A that are produced as a result of alternative splicing events. The gene encoding PRPF38A maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. There are about 3000 genes on chromosome 1 and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.
ELISA, IHC, WB
Human 1, Mouse
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