Aliases for PCSK6 Gene
External Ids for PCSK6 Gene
Previous HGNC Symbols for PCSK6 Gene
Previous GeneCards Identifiers for PCSK6 Gene
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]
GeneCards Summary for PCSK6 Gene
PCSK6 (Proprotein Convertase Subtilisin/Kexin Type 6) is a Protein Coding gene. Diseases associated with PCSK6 include Retinitis Pigmentosa 31 and Avian Influenza. Among its related pathways are Keratinization and Metabolism. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PCSK5.
UniProtKB/Swiss-Prot for PCSK6 Gene
Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues.