COL10A1

Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia), also known as COL10A1, is a human gene.cite web | title = Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1300| accessdate = ]

PBB_Summary
section_title =
summary_text = 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).cite web | title = Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1300| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Kuivaniemi H, Tromp G, Prockop DJ |title=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. |journal=Hum. Mutat. |volume=9 |issue= 4 |pages= 300–15 |year= 1997 |pmid= 9101290 |doi= 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9 |doilabel=10.1002/(SICI)1098-1004(1997)9:4300::AID-HUMU23.0.CO;2-9
*cite journal | author=Kirsch T, Pfäffle M |title=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. |journal=FEBS Lett. |volume=310 |issue= 2 |pages= 143–7 |year= 1992 |pmid= 1397263 |doi=
*cite journal | author=Reichenberger E, Beier F, LuValle P, "et al." |title=Genomic organization and full-length cDNA sequence of human collagen X. |journal=FEBS Lett. |volume=311 |issue= 3 |pages= 305–10 |year= 1992 |pmid= 1397333 |doi=
*cite journal | author=Apte SS, Seldin MF, Hayashi M, Olsen BR |title=Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10. |journal=Eur. J. Biochem. |volume=206 |issue= 1 |pages= 217–24 |year= 1992 |pmid= 1587271 |doi=
*cite journal | author=Reichenberger E, Aigner T, von der Mark K, "et al." |title=In situ hybridization studies on the expression of type X collagen in fetal human cartilage. |journal=Dev. Biol. |volume=148 |issue= 2 |pages= 562–72 |year= 1992 |pmid= 1743401 |doi=
*cite journal | author=Thomas JT, Cresswell CJ, Rash B, "et al." |title=The human collagen X gene. Complete primary translated sequence and chromosomal localization. |journal=Biochem. J. |volume=280 ( Pt 3) |issue= |pages= 617–23 |year= 1992 |pmid= 1764025 |doi=
*cite journal | author=Apte S, Mattei MG, Olsen BR |title=Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6. |journal=FEBS Lett. |volume=282 |issue= 2 |pages= 393–6 |year= 1991 |pmid= 2037056 |doi=
*cite journal | author=Bonaventure J, Chaminade F, Maroteaux P |title=Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. |journal=Hum. Genet. |volume=96 |issue= 1 |pages= 58–64 |year= 1995 |pmid= 7607655 |doi=
*cite journal | author=McIntosh I, Abbott MH, Francomano CA |title=Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. |journal=Hum. Mutat. |volume=5 |issue= 2 |pages= 121–5 |year= 1995 |pmid= 7749409 |doi= 10.1002/humu.1380050204
*cite journal | author=Chan D, Cole WG, Rogers JG, Bateman JF |title=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. |journal=J. Biol. Chem. |volume=270 |issue= 9 |pages= 4558–62 |year= 1995 |pmid= 7876225 |doi=
*cite journal | author=McIntosh I, Abbott MH, Warman ML, "et al." |title=Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. |journal=Hum. Mol. Genet. |volume=3 |issue= 2 |pages= 303–7 |year= 1994 |pmid= 8004099 |doi=
*cite journal | author=Dharmavaram RM, Elberson MA, Peng M, "et al." |title=Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. |journal=Hum. Mol. Genet. |volume=3 |issue= 3 |pages= 507–9 |year= 1994 |pmid= 8012364 |doi=
*cite journal | author=Warman ML, Abbott M, Apte SS, "et al." |title=A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. |journal=Nat. Genet. |volume=5 |issue= 1 |pages= 79–82 |year= 1993 |pmid= 8220429 |doi= 10.1038/ng0993-79
*cite journal | author=Wallis GA, Rash B, Sweetman WA, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=54 |issue= 2 |pages= 169–78 |year= 1994 |pmid= 8304336 |doi=
*cite journal | author=Pokharel RK, Alimsardjono H, Uno K, "et al." |title=A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia. |journal=Biochem. Biophys. Res. Commun. |volume=217 |issue= 3 |pages= 1157–62 |year= 1996 |pmid= 8554571 |doi= 10.1006/bbrc.1995.2890
*cite journal | author=Wallis GA, Rash B, Sykes B, "et al." |title=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. |journal=J. Med. Genet. |volume=33 |issue= 6 |pages= 450–7 |year= 1996 |pmid= 8782043 |doi=
*cite journal | author=Stratakis CA, Orban Z, Burns AL, "et al." |title=Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia. |journal=Biochem. Mol. Med. |volume=59 |issue= 2 |pages= 112–7 |year= 1997 |pmid= 8986632 |doi=
*cite journal | author=Beier F, Eerola I, Vuorio E, "et al." |title=Variability in the upstream promoter and intron sequences of the human, mouse and chick type X collagen genes. |journal=Matrix Biol. |volume=15 |issue= 6 |pages= 415–22 |year= 1997 |pmid= 9049979 |doi=
*cite journal | author=Ikegawa S, Nakamura K, Nagano A, "et al." |title=Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. |journal=Hum. Mutat. |volume=9 |issue= 2 |pages= 131–5 |year= 1997 |pmid= 9067753 |doi= 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C |doilabel=10.1002/(SICI)1098-1004(1997)9:2131::AID-HUMU53.0.CO;2-C

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes