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MGP004265

UniProt Annotations

Entry Information

Gene Name	cartilage associated protein
Protein Entry	CRTAP_HUMAN
UniProt ID	O75718
Species	Human

Comments

Comment type	Description
Disease	Osteogenesis imperfecta 7 (OI7) [MIM:610682]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency. {ECO:0000269\|PubMed:17055431, ECO:0000269\|PubMed:18566967, ECO:0000269\|PubMed:19550437, ECO:0000269\|PubMed:21955071}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. {ECO:0000269\|PubMed:17055431}.
Similarity	Belongs to the leprecan family. {ECO:0000305}.
Subcellular Location	Secreted, extracellular space, extracellular matrix {ECO:0000250}.
Tissue Specificity	Found in articular chondrocytes. Expressed in a variety of tissues.
Web Resource	Name=Osteogenesis imperfecta variant database; Note=Cartilage-associated protein (CRTAP); URL="http://oi.gene.le.ac.uk/home.php?select_db=CRTAP";