GeneID: 317
Names
| Common Name: | PCSK5 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 9 (NC_000009.12) | Locus: | NG_029445.1 (PCSK5) |
| HUGO Symbol: | PCSK5 | Full Name: | proprotein convertase subtilisin/kexin type 5 |
| Exons: | 37 | Introns: | 36 |
Description:
This gene encodes a member of the subtilisin-like proprotein convertase family. These enzymes are involved in the proteolytic conversion of precursor proteins to their active forms by selective cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Substrates for these enzymes range from prohormones to precursors for growth factors to cell surface receptors and viral surface glycoproteins. Genetic variance in PCSK5 gene associated with episodes of pain in patients with sickle cell disease.
Synonyms: PC5 , PC6 , PC6A , SPC6
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Van de Ven WJ, Roebroek AJ, Van Duijnhoven HL, Structure and function of eukaryotic proprotein processing enzymes of the subtilisin family of serine proteases., Crit Rev Oncog, 4(2), 115-36, 1993
- Cao H, Mok A, Miskie B, Hegele RA, Single-nucleotide polymorphisms of the proprotein convertase subtilisin/ kexin type 5 (PCSK5) gene., J. Hum. Genet., 46(12), 730-2, 2001
- Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013