| 词条 | Membrane-bound transcription factor site-1 protease |
| 释义 |
FunctionThis gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the endoplasmic reticulum (ER) to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues.[1] Clinical significanceMutations in this gene may be associated with lysosomal dysfunction.[1] See also
References1. ^1 2 {{cite web | title = Entrez Gene: Membrane-bound transcription factor peptidase, site 1 | url = https://www.ncbi.nlm.nih.gov/gene/8720 }} 2. ^{{cite journal | vauthors = Brown MS, Goldstein JL | title = A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 96 | issue = 20 | pages = 11041–8 | year = 1999 | pmid = 10500120 | doi = 10.1073/pnas.96.20.11041 | pmc = 34238 }} 3. ^{{cite journal | vauthors = Nakajima T, Iwaki K, Kodama T, Inazawa J, Emi M | title = Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene | journal = J. Hum. Genet. | volume = 45 | issue = 4 | pages = 212–7 | year = 2000 | pmid = 10944850 | doi = 10.1007/s100380070029 }} External links
1 : EC 3.4.21 |
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