1gr3

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Template:STRUCTURE 1gr3

Contents 1 STRUCTURE OF THE HUMAN COLLAGEN X NC1 TRIMER 2 Disease 3 Function 4 About this Structure 5 See Also 6 Reference

STRUCTURE OF THE HUMAN COLLAGEN X NC1 TRIMER

Template:ABSTRACT PUBMED 11839302

Disease

[COAA1_HUMAN] Defects in COL10A1 are the cause of Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]. SMCD is a dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity.^{[1][2][3][4][5][6][7][8]}

Function

[COAA1_HUMAN] Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.

About this Structure

1gr3 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

• Collagen

Reference

• Bogin O, Kvansakul M, Rom E, Singer J, Yayon A, Hohenester E. Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer. Structure. 2002 Feb;10(2):165-73. PMID:11839302
• Bateman JF, Wilson R, Freddi S, Lamande SR, Savarirayan R. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Hum Mutat. 2005 Jun;25(6):525-34. PMID:15880705 doi:10.1002/humu.20183

1. ↑ Wallis GA, Rash B, Sweetman WA, Thomas JT, Super M, Evans G, Grant ME, Boot-Handford RP. 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. 1994 Feb;54(2):169-78. PMID:8304336
2. ↑ McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Hum Mol Genet. 1994 Feb;3(2):303-7. PMID:8004099
3. ↑ Chan D, Cole WG, Rogers JG, Bateman JF. 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. 1995 Mar 3;270(9):4558-62. PMID:7876225
4. ↑ Bonaventure J, Chaminade F, Maroteaux P. Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. Hum Genet. 1995 Jul;96(1):58-64. PMID:7607655
5. ↑ Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP. 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. 1996 Jun;33(6):450-7. PMID:8782043
6. ↑ Ikegawa S, Nakamura K, Nagano A, Haga N, Nakamura Y. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. Hum Mutat. 1997;9(2):131-5. PMID:9067753 doi:<131::AID-HUMU5>3.0.CO;2-C 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C
7. ↑ Sawai H, Ida A, Nakata Y, Koyama K. Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. J Hum Genet. 1998;43(4):259-61. PMID:9852679 doi:10.1007/s100380050085
8. ↑ Bateman JF, Wilson R, Freddi S, Lamande SR, Savarirayan R. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Hum Mutat. 2005 Jun;25(6):525-34. PMID:15880705 doi:10.1002/humu.20183