rs117595600
This variant is located in the PCOLCE gene.
▶ClinVar annotation
About PCOLCE
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. [provided by RefSeq, Jul 2008]
View all PCOLCE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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