Scientific background: |
PCSK1(Proprotein Convertase, Subtilisin/Kexin-Type, 1), also known as PC1 or NEC1, is an enzyme that in humans is encoded by the PCSK1 gene. Proprotein convertase-1 is a neuroendocrine convertase that belongs to a family of subtilisin-like serine endoproteases that process large precursor proteins into mature bioactive products. By in situ hybridization, Seidah et al. (1991) mapped the NEC1 gene to human chromosome 5q15-q21 and mouse chromosome 13. Ohagi et al. (1996) noted that PC1 initiates the sequential processing of proinsulin to insulin by cleaving the proinsulin molecule on the C-terminal side of the dibasic peptide, arg31-arg32, joining the B-chain and C-peptide. By observing the phenotypic features in patients with PC1 mutations, Jackson et al. (2003) concluded that human intestinal absorptive function is dependent on PC1 activity. |
References: |
1. Jackson, R. S., Creemers, J. W. M., Farooqi, I. S., Raffin-Sanson, M.-L., Varro, A., Dockray, G. J., Holst, J. J., Brubaker, P. L., Corvol, P., Polonsky, K. S., Ostrega, D., Becker, K. L., and 10 others. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J. Clin. Invest. 112: 1550-1560, 2003.
2. Ohagi, S., Sakaguchi, H., Sanke, T., Tatsuta, H., Hanabusa, T., Nanjo, K. Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM. Diabetes 45: 897-901, 1996.
3. Seidah, N. G., Mattei, M. G., Gaspar, L., Benjannet, S., Mbikay, M., Chretien, M. Chromosomal assignments of the genes for neuroendocrine convertase PC1 (NEC1) to human 5q15-21, neuroendocrine convertase PC2 (NEC2) to human 20p11.1-11.2, and furin (mouse 7[D1-E2] region). Genomics 11: 103-107, 1991. |