Biology:PCSK5

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Proprotein convertase subtilisin/kexin type 5 is an enzyme that in humans is encoded by the PCSK5 gene, found in chromosome 9q21.3[1][2][3] Two alternatively spliced transcripts are described for this gene but only one has its full length nature known.

Function

The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein mediates posttranslational endoproteolytic processing for several integrin alpha subunits. It is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160.[3]

Clinical significance

Mutations in this gene have been associated with Currarino syndrome-like malformations.[4]

References

  1. "Assignment of the human proprotein convertase gene PCSK5 to chromosome 9q21.3". Cytogenetic and Genome Research 75 (4): 227–229. 1996. doi:10.1159/000134489. PMID 9067430. 
  2. "Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human". Genomics 26 (1): 123–9. Jul 1995. doi:10.1016/0888-7543(95)80090-9. PMID 7782070. 
  3. 3.0 3.1 "Entrez Gene: PCSK5 proprotein convertase subtilisin/kexin type 5". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5125. 
  4. "VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5". Genes Dev. 22 (11): 1465–77. June 2008. doi:10.1101/gad.479408. PMID 18519639. 

Further reading