PCSK6 proprotein convertase subtilisin/kexin type 6
Gene ID: 5046, updated on 17-Sep-2024Gene type: protein coding
Also known as: SPC4; PACE4
- See all available tests in GTR for this gene
- Go to complete Gene record for PCSK6
- Go to Variation Viewer for PCSK6 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. GeneReviews: Not available | |
PCSK6 is associated with handedness in individuals with dyslexia. GeneReviews: Not available |
Genomic context
- Location:
- 15q26.3
- Sequence:
- Chromosome: 15; NC_000015.10 (101303933..101489707, complement)
- Total number of exons:
- 24
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PCSK6 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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