COL10A1

Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)
PDB rendering based on 1gr3.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1gr3​
Identifiers
Symbols	COL10A1 ;
External IDs	Template:OMIM5 Template:MGI HomoloGene: 55466
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia), also known as COL10A1, is a human gene.

This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).

Further reading

• Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.CS1 maint: Multiple names: authors list (link)
• Kirsch T, Pfäffle M (1992). "Selective binding of anchorin CII (annexin V) to type II and X collagen and to chondrocalcin (C-propeptide of type II collagen). Implications for anchoring function between matrix vesicles and matrix proteins". FEBS Lett. 310 (2): 143–7. PMID 1397263.
• Reichenberger E, Beier F, LuValle P; et al. (1992). "Genomic organization and full-length cDNA sequence of human collagen X.". FEBS Lett. 311 (3): 305–10. PMID 1397333.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Apte SS, Seldin MF, Hayashi M, Olsen BR (1992). "Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10". Eur. J. Biochem. 206 (1): 217–24. PMID 1587271.CS1 maint: Multiple names: authors list (link)
• Reichenberger E, Aigner T, von der Mark K; et al. (1992). "In situ hybridization studies on the expression of type X collagen in fetal human cartilage". Dev. Biol. 148 (2): 562–72. PMID 1743401.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Thomas JT, Cresswell CJ, Rash B; et al. (1992). "The human collagen X gene. Complete primary translated sequence and chromosomal localization". Biochem. J. 280 ( Pt 3): 617–23. PMID 1764025.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Apte S, Mattei MG, Olsen BR (1991). "Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6". FEBS Lett. 282 (2): 393–6. PMID 2037056.CS1 maint: Multiple names: authors list (link)
• Bonaventure J, Chaminade F, Maroteaux P (1995). "Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias". Hum. Genet. 96 (1): 58–64. PMID 7607655.CS1 maint: Multiple names: authors list (link)
• McIntosh I, Abbott MH, Francomano CA (1995). "Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen". Hum. Mutat. 5 (2): 121–5. doi:10.1002/humu.1380050204. PMID 7749409.CS1 maint: Multiple names: authors list (link)
• Chan D, Cole WG, Rogers JG, Bateman JF (1995). "Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia". J. Biol. Chem. 270 (9): 4558–62. PMID 7876225.CS1 maint: Multiple names: authors list (link)
• McIntosh I, Abbott MH, Warman ML; et al. (1994). "Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus". Hum. Mol. Genet. 3 (2): 303–7. PMID 8004099.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dharmavaram RM, Elberson MA, Peng M; et al. (1994). "Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia". Hum. Mol. Genet. 3 (3): 507–9. PMID 8012364.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Warman ML, Abbott M, Apte SS; et al. (1993). "A type X collagen mutation causes Schmid metaphyseal chondrodysplasia". Nat. Genet. 5 (1): 79–82. doi:10.1038/ng0993-79. PMID 8220429.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wallis GA, Rash B, Sweetman WA; et al. (1994). "Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid". Am. J. Hum. Genet. 54 (2): 169–78. PMID 8304336.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pokharel RK, Alimsardjono H, Uno K; et al. (1996). "A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia". Biochem. Biophys. Res. Commun. 217 (3): 1157–62. doi:10.1006/bbrc.1995.2890. PMID 8554571.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wallis GA, Rash B, Sykes B; et al. (1996). "Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia". J. Med. Genet. 33 (6): 450–7. PMID 8782043.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stratakis CA, Orban Z, Burns AL; et al. (1997). "Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia". Biochem. Mol. Med. 59 (2): 112–7. PMID 8986632.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Beier F, Eerola I, Vuorio E; et al. (1997). "Variability in the upstream promoter and intron sequences of the human, mouse and chick type X collagen genes". Matrix Biol. 15 (6): 415–22. PMID 9049979.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ikegawa S, Nakamura K, Nagano A; et al. (1997). "Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia". Hum. Mutat. 9 (2): 131–5. doi:10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C. PMID 9067753.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)