(Proprotein Convertase Subtilisin/kexin Type 2 (PCSK2))
This gene encodes a member of the subtilisin-like proprotein convertase family. These enzymes process latent precursor proteins into their biologically active products. The encoded protein plays a critical role in hormone biosynthesis by processing a variety of prohormones including proinsulin, proopiomelanocortin and proluteinizing-hormone-releasing hormone. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011].
van Rijn, Pouwer, Tryfonidou, Grinwis, van der Bend, Beukers, Vastenhout, Drouin, Penning, Meij: "Expression and clinical relevance of paired box protein 7 and sex determining region Y-box 2 in canine corticotroph pituitary adenomas." in: Veterinary journal (London, England : 1997), Vol. 204, Issue 3, pp. 315-21, (2015) (PubMed).
Discher, Bishopric, Wu, Peterson, Webster: "Hypoxia regulates beta-enolase and pyruvate kinase-M promoters by modulating Sp1/Sp3 binding to a conserved GC element." in: The Journal of biological chemistry, Vol. 273, Issue 40, pp. 26087-93, (1998) (PubMed).
Feo, Antona, Barbieri, Passantino, Calì, Giallongo: "Transcription of the human beta enolase gene (ENO-3) is regulated by an intronic muscle-specific enhancer that binds myocyte-specific enhancer factor 2 proteins and ubiquitous G-rich-box binding factors." in: Molecular and cellular biology, Vol. 15, Issue 11, pp. 5991-6002, (1995) (PubMed).
Giallongo, Venturella, Oliva, Barbieri, Rubino, Feo: "Structural features of the human gene for muscle-specific enolase. Differential splicing in the 5'-untranslated sequence generates two forms of mRNA." in: European journal of biochemistry / FEBS, Vol. 214, Issue 2, pp. 367-74, (1993) (PubMed).