Progestin And AdipoQ Receptor Family, Member VI (PAQR6)
PAQR6 is a 344 amino acid multi-pass membrane protein that is expressed as four alternatively spliced isoforms and is thought to function as a membrane receptor. The gene encoding mPRδ maps to chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 encodes a large number of disease-associated proteins, including Lamin A which, when expressed abnormally, can build up in the nucleus and cause nuclear blebs, a characteristic of the rare aging disease Hutchinson-Gilford progeria. Additionally, genes that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinsons Disease, Gaucher disease, schizophrenia and Usher syndrome are all located on chromosome 1.
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