The human type I collagen mutation database
The human type I collagen mutation database
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DOI：
10.1093/nar/25.1.181
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发表时间：
1997-01-01
影响因子：
14.9
通讯作者：
Dalgleish, R
中科院分区：
文献类型：
--
作者：
Dalgleish, R
I型胶原蛋白是胶原蛋白家族中最丰富和分布最广泛的蛋白质。它是一种异源三聚体，包含两条α 1（l）链和一条α 2（l）链，分别由非连锁基因座COL 1A 1和COL 1A 2编码。这些基因座的突变主要导致结缔组织疾病成骨不全和埃勒斯-当洛斯综合征VIIA和VIIB型。两例骨质疏松症和一例马凡氏综合征也是这些基因座突变的结果。突变数据可在万维网http://www.le.ac.uk/depts/ge/collagen/collage.html上获得。
Type I collagen is the most abundant and ubiquitously distributed of the collagen family of proteins. It is a heterotrimer comprising two alpha 1(l) chains and one alpha 2(l) chain which are encoded by the unlinked loci COL1A1 and COL1A2 respectively. Mutations at these loci result primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VIIB. Two instances of osteoporosis and a single instance of Marfan syndrome are also the result of mutations at these loci. The mutation data are accessible on the world wide web at http://www.le.ac.uk/depts/ge/collagen/collage.html.