COL5A3基因突变与药物因子介绍
该基因编码一条α链，用于一种低丰度的纤维胶原纤维胶原分子是由一种或多种α链组成的三聚体V型胶原存在于含有I型胶原的组织中，似乎调节由I型胶原和V型胶原组成的异型纤维的组装。该基因产物与XI型胶原密切相关，可能V型和XI型胶原链通过组织特异性链组合构成单一胶原类型该基因的突变被认为是埃勒斯-丹洛斯综合征III型患者的症状的原因。在northern blots中可以检测到多种大小的信息，但序列信息不能确认较短信息的身份[由RefSeq提供，2008年7月]
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
