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PCOLCE

Synonyms
PCPE, PCPE-1, PCPE1
External resources
Summary
Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
5,348
Likely benign
1,509
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PCOLCE gene.

Phenotype class
Patients in 3billion (%)

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