Proprotein convertase subtilisin/kexin type 5 is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the ''PCSK5''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
, found in chromosome 9q21.3
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 Proprotein convertases (PPCs) are a family of proteins that activate other proteins. Many proteins are inactive when they are first synthesized, because they contain chains of amino acids that block their activity. Proprotein convertases remove thos ...
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
Integrins are transmembrane receptors that facilitate cell-cell and cell-extracellular matrix (ECM) adhesion. Upon ligand binding, integrins activate signal transduction pathways that mediate cellular signals such as regulation of the cell cycle ...
alpha subunits. It is thought to process
prorenin, pro-membrane type-1
matrix metalloproteinase
Matrix metalloproteinases (MMPs), also known as matrix metallopeptidases or matrixins, are metalloproteinases that are calcium-dependent zinc-containing endopeptidases; other family members are adamalysins, serralysins, and astacins. The MMPs be ...
and HIV-1 glycoprotein
gp160
''Env'' is a viral gene that encodes the protein forming the viral envelope. The expression of the ''env'' gene enables retroviruses to target and attach to specific cell types, and to infiltrate the target cell membrane.
Analysis of the structur ...
.
Clinical significance
Mutations in this gene have been associated with
Currarino syndrome
Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformatio ...
-like malformations.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-9-stub