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词条 Collagen, type X, alpha 1
释义

  1. References

  2. Further reading

{{Infobox_gene}}Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the COL10A1 gene.[1][2]

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. Type X collagen has a short triple helical collagen domain flanked by the N-terminal NC2 and the C-terminal NC1 domains. The C-terminal NC1 domain has complement C1q-like structure. Collagen X forms hexamer complexes through the association of NC1 regions[3]. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).[4]

DDR2 is a collagen receptor for it.[5]

Recent studies into the early detection of colon cancer have identified COL10A1 protein levels in serum as a potential diagnostic biomarker candidate to detect both adenoma lesions and tumor.[6]

Collagen alpha-1(X) undergoes degradation in the active growth plate releasing an intact NC1 region with a small amount of collagenous region attached. This degradation byproduct has been deemed CXM and has potential to be a useful biomarker to assess real time growth velocity in children and fracture healing in adults [7].

References

1. ^{{cite journal | vauthors = 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 |date=Jul 1991 | pmid = 2037056 | pmc = | doi =10.1016/0014-5793(91)80521-4 }}
2. ^{{cite web | title = Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1300| accessdate = }}
3. ^Kwan et al. 2005
4. ^{{cite web | title = Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1300| accessdate = }}
5. ^{{cite journal |vauthors=Leitinger B, Kwan AP |title=The discoidin domain receptor DDR2 is a receptor for type X collagen |journal=Matrix Biol. |volume=25 |issue=6 |pages=355–64 |date=August 2006 |pmid=16806867 |doi=10.1016/j.matbio.2006.05.006 |url=http://linkinghub.elsevier.com/retrieve/pii/S0945-053X(06)00058-8}}
6. ^{{cite journal |vauthors=Solé X, Crous-Bou M, Cordero D, Olivares D, Guinó E, Sanz-Pamplona R, Rodriguez-Moranta F, Sanjuan X, de Oca J, Salazar R, Moreno V |title=Discovery and validation of new potential biomarkers for early detection of colon cancer |date=September 2014 |doi=10.1371/journal.pone.0106748 |pmid=25215506 |volume=9 |pages=e106748 |journal=PLoS ONE |pmc=4162553}}
7. ^http://stm.sciencemag.org/content/9/419/eaan4669

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors=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 }}
  • {{cite journal | vauthors=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=10.1016/0014-5793(92)81316-E }}
  • {{cite journal | vauthors=Reichenberger E, Beier F, LuValle P |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=10.1016/0014-5793(92)81126-7 |display-authors=etal}}
  • {{cite journal | vauthors=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=10.1111/j.1432-1033.1992.tb16919.x }}
  • {{cite journal | vauthors=Reichenberger E, Aigner T, von der Mark K |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=10.1016/0012-1606(91)90274-7 |display-authors=etal}}
  • {{cite journal | vauthors=Thomas JT, Cresswell CJ, Rash B |title=The human collagen X gene. Complete primary translated sequence and chromosomal localization. |journal=Biochem. J. |volume=280 |issue= 3|pages= 617–23 |year= 1992 |pmid= 1764025 | pmc=1130499 |doi= |display-authors=etal}}
  • {{cite journal | vauthors=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=10.1007/BF00214187 }}
  • {{cite journal | vauthors=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 | vauthors=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=10.1074/jbc.270.9.4558 }}
  • {{cite journal | vauthors=McIntosh I, Abbott MH, Warman ML |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=10.1093/hmg/3.2.303 |display-authors=etal}}
  • {{cite journal | vauthors=Dharmavaram RM, Elberson MA, Peng M |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=10.1093/hmg/3.3.507 |display-authors=etal}}
  • {{cite journal | vauthors=Warman ML, Abbott M, Apte SS |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 |display-authors=etal}}
  • {{cite journal | vauthors=Wallis GA, Rash B, Sweetman WA |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 | pmc=1918153 |doi= |display-authors=etal}}
  • {{cite journal | vauthors=Pokharel RK, Alimsardjono H, Uno K |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 |display-authors=etal}}
  • {{cite journal | vauthors=Wallis GA, Rash B, Sykes B |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 | pmc=1050629 |doi=10.1136/jmg.33.6.450 |display-authors=etal}}
  • {{cite journal | vauthors=Stratakis CA, Orban Z, Burns 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=10.1006/bmme.1996.0075 |display-authors=etal}}
  • {{cite journal | vauthors=Beier F, Eerola I, Vuorio E |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=10.1016/S0945-053X(96)90160-2 |display-authors=etal}}
  • {{cite journal | vauthors=Ikegawa S, Nakamura K, Nagano A |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|display-authors=etal}}
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