免 疫 原：KLH conjugated synthetic peptide derived from human TMEM59
抗原表位：141-240/323
SWISS：Q9BXS4
Gene ID ：9528
Human Gene ID：9528

TMEM59 is a 144 amino acid protein encoded by a gene mapping to human chromosome 1. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 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. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
Function：Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP. Inhibits APP transport to the cell surface and further shedding.
Subcellular Location：Golgi apparatus membrane.
Post-translational modifications：N-glycosylated.
Similarity：Belongs to the TMEM59 family.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.