COL10A1 Gene: Collagen Type X Alpha 1 Chain
Key regulator of endochondral ossification and cartilage development
Gene Information Card
| Symbol | COL10A1 |
|---|---|
| Full Name | Collagen Type X Alpha 1 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.1 |
| NCBI Gene ID | 1300 ncbi.nlm.nih.gov/gene/1300 |
| Ensembl ID | ENSG00000123500 |
| UniProt ID | Q03692 |
| OMIM ID | 120110 |
| HGNC ID | 2185 |
| Aliases | COL10A1, collagen X, alpha-1 chain |
Description
COL10A1 encodes the alpha-1 chain of type X collagen, a short-chain collagen primarily expressed in hypertrophic chondrocytes during endochondral ossification. This gene is essential for normal skeletal development and growth plate function. Mutations in COL10A1 are associated with Schmid metaphyseal chondrodysplasia (SMCD), a disorder characterized by short stature and metaphyseal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schmid metaphyseal chondrodysplasia | Missense or nonsense mutations in COL10A1 disrupt collagen X trimer assembly and secretion, leading to defective endochondral ossification. | ClinVar, OMIM |
| Metaphyseal dysplasia | Similar mutations impair cartilage matrix integrity, causing metaphyseal flaring and growth plate abnormalities. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 0.0 | Not detected |
| Cartilage | 0.0 | Not detected |
| Adipose tissue | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Hep G2 | 0.0 | Not expressed |
| K-562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1963C>T (p.Arg655*) | Nonsense | Rare | Premature stop codon leading to truncated protein and loss of function |
| c.2002G>A (p.Gly668Arg) | Missense | Rare | Disrupts collagen triple helix formation, dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated collagen X chains that fail to assemble into functional trimers.
Gain of Function (GOF)
Not reported for COL10A1.
Dominant Negative (DN)
Missense mutations (e.g., Gly substitutions) in the triple helix domain interfere with normal collagen X assembly, causing dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen trimer |
| • endochondral ossification | • cartilage development |
Pathways
• Collagen biosynthesis and modifying enzymes
• Endochondral ossification
Protein Summary
Collagen type X alpha 1 chain is a 680-amino acid protein that forms homotrimers (type X collagen). It is a short-chain collagen with a triple-helical domain flanked by non-collagenous N- and C-terminal domains. The protein is secreted by hypertrophic chondrocytes and localizes to the extracellular matrix of the growth plate, where it supports matrix mineralization and bone formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL10A1 Knockout HEK293 Cell Line | EDJ-KQ4312 | Human | 1300 | Details Get a Quote |
| COL10A1 Knockout HeLa Cell Line | EDJ-KQ52953 | Human | 1300 | Details Get a Quote |
| COL10A1 Knockout A-549 Cell Line | EDJ-KQ61421 | Human | 1300 | Details Get a Quote |
| COL10A1 Knockout HCT 116 Cell Line | EDJ-KQ69919 | Human | 1300 | Details Get a Quote |
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