Proprotein Convertase, Subtilisin/Kexin-Type, 9

Alternative Names

  • PCSK9
  • Neural Apoptosis-Regulated Convertase 1
  • NARC1
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OMIM Number

607786

NCBI Gene ID

255738

Uniprot ID

Q8NBP7

Length

25,305 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Proprotein convertase subtilisin/kexin type 9

Molecular Mass

74286 Da

Amino Acid Count

692

Genomic Location

chr1:55,039,547-55,064,851

Gene Map Locus
1p32.3

Description

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 autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000001.11:g.55030366T>ALebanonNC_000001.11:g.55030366T>ABenign11206510
NM_174936.4:c.323T>GUnited Arab EmiratesNC_000001.11:g.55043958T>GLikely Pathogenic, Pathogenic, Uncertain SignificanceUncertain SignificanceHypercholesterolemia, Familial, 1NG_009061.1:g.9412T>G; NM_174936.4:c.323T>G; NP_777596.2:p.Leu108Arg1057519691375849
NM_174936.4:c.45_47GCT[10]LebanonNC_000001.11:g.55039882_55039884GCT[10]Likely Benign, Uncertain SignificanceUncertain SignificanceHypercholesterolemia, Familial, 1NG_009061.1:g.5336_5338GCT[10]; NM_174936.4:c.45_47GCT[10]; NP_777596.2:p.Leu21_Leu23dup35574083597379
NM_174936.4:c.45_47GCT[9]LebanonNC_000001.11:g.55039882_55039884GCT[9]Benign, Likely Benign, Uncertain SignificanceUncertain SignificanceHypercholesterolemia, Familial, 1NG_009061.1:g.5336_5338GCT[9]; NM_174936.4:c.45_47GCT[9]; NP_777596.2:p.Leu22_Leu23dup35574083265916

Other Reports

Oman

Al-Waili et al. (2013) performed DNA sequencing for the PCSK9 gene for two Omani patients clinically diagnosed with familial hypercholesterolemia. Heterozygous missense mutation was identified in exon 9 in both patients, leading to the substitution of isoleucine to valine at 474 position (p.I474V).

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