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Gene : PCSK9 Homo sapiens

Name  ? proprotein convertase subtilisin/kexin type 9 Cytological Location  1p32.3
Brief Description  proprotein convertase subtilisin/kexin type 9
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. [provided by RefSeq, Feb 2014]
  • synonyms:
  • FH3,
  • OTTHUMG00000008136,
  • AX207686,
  • hypercholesterolemia, autosomal dominant 3,
  • HCHOLA3,
  • NARC-1,
  • NARC-1,
  • HCHOLA3,
  • FH3,
  • LDLCQ1,
  • uc001cyf.3,
  • NM_174936,
  • HGNC:20001,
  • NARC1,
  • PCSK9,
  • PC9
  • identifiers:
  • 255738,
  • ENSG00000169174,
  • PCSK9

Genome feature

Region: gene ? Length: 25378  
Location: 1:55039476-55064853 Cyto location: 1p32.3


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Function

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

168 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results