Gene: PCSK6

Alternate names for this Gene: PACE4|SPC4

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.3

Description of this Gene: proprotein convertase subtilisin/kexin type 6

Type of Gene: protein-coding

rs11247294 in PCSK6 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs6598475 in PCSK6 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30470734 2018 Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia.

rs7182874 in PCSK6 gene and Dyslexia PMID 24068947 2013 Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.

rs7182874 in PCSK6 gene and Handedness PMID 24068947 2013 Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.

rs11852310 in PCSK6 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs12101753 in PCSK6 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11247287 in PCSK6 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.