CROCCP3
Description
The CROCCP3 (CROCC pseudogene 3) is a pseudo gene located on chromosome 1.
CROCCP3 is a gene that encodes the protein carboxypeptidase O, an enzyme involved in the processing of procollagen. Its role is to cleave off the C-terminal propeptide from procollagen, which is crucial for the formation of mature collagen fibrils. Mutations in this gene have been linked to skeletal disorders like Ehlers-Danlos syndrome.
CROCCP3, also known as Carboxypeptidase O, is an enzyme that plays a critical role in the processing of procollagen, a precursor to collagen. It specifically cleaves off the C-terminal propeptide from procollagen molecules, which is essential for the formation of mature collagen fibrils. This enzyme is highly expressed in tissues rich in collagen, such as skin, bone, and cartilage. Mutations in the CROCCP3 gene have been linked to various skeletal disorders, including Ehlers-Danlos syndrome, highlighting its importance in maintaining structural integrity and proper collagen function.
CROCCP3 is also known as CROCCL2, dJ798A10.2.
