CRTAP Gene
Cartilage Associated Protein
Gene Information Card
| Symbol | CRTAP |
|---|---|
| Full Name | Cartilage Associated Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 10491 ncbi.nlm.nih.gov/gene/10491 |
| Ensembl ID | ENSG00000170266 |
| UniProt ID | O75718 |
| OMIM ID | 605497 |
| HGNC ID | 2379 |
| Aliases | CASP, LEPREL3, P3H4 |
Description
The CRTAP gene encodes cartilage associated protein, a component of the prolyl 3-hydroxylase complex that modifies collagen for proper folding and assembly. Mutations in CRTAP impair collagen modification, leading to osteogenesis imperfecta type VII and other connective tissue disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis imperfecta type VII | Loss of CRTAP function disrupts prolyl 3-hydroxylation of collagen alpha chains, causing brittle bones | OMIM #610682 |
| Osteogenesis imperfecta type VIII | Biallelic CRTAP mutations reduce collagen modification, leading to severe skeletal dysplasia | OMIM #610915 |
| Bruck syndrome | CRTAP deficiency impairs collagen crosslinking, resulting in joint contractures and bone fragility | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Cartilage | 15.3 | Medium |
| Skin | 8.2 | Low |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteoblasts | 18.4 | High expression |
| Chondrocytes | 14.2 | Medium expression |
| Fibroblasts | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.21_22delCT | Frameshift | Rare | Loss of function |
| c.472C>T (p.Arg158*) | Nonsense | Rare | Premature truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most CRTAP mutations are loss-of-function, reducing prolyl 3-hydroxylase activity and collagen stability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not observed; CRTAP mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-proline 3-dioxygenase activity (GO:0018401) | • extracellular matrix organization (GO:0030198) |
| • endoplasmic reticulum (GO:0005783) | • peptidyl-proline hydroxylation to 3-hydroxyproline (GO:0017187) |
Pathways
• Collagen biosynthesis and modifying enzymes
• Prolyl 3-hydroxylation of collagen
Protein Summary
Cartilage associated protein (CRTAP) is a 401-amino acid protein localized to the endoplasmic reticulum. It forms a complex with P3H1 and CYB to catalyze prolyl 3-hydroxylation of collagen alpha chains, essential for collagen triple helix stability and extracellular matrix integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRTAP Knockout HEK293 Cell Line | EDJ-KQ2406 | Human | 10491 | Details Get a Quote |
| CRTAP Knockout A-549 Cell Line | EDJ-KQ22903 | Human | 10491 | Details Get a Quote |
| CRTAP Knockout HCT 116 Cell Line | EDJ-KQ22904 | Human | 10491 | Details Get a Quote |
| CRTAP Knockout HeLa Cell Line | EDJ-KQ22905 | Human | 10491 | Details Get a Quote |
