COL13A1 - collagen type XIII alpha 1 chain Gene

中文名称：XIII 型胶原蛋白 alpha 1 链

种属: Homo sapiens

同用名: CMS19; COLXIIIA1

关于 COL13A1

功能概要

该基因编码一种非原纤维胶原蛋白的α链。该基因产物的功能尚不清楚，但已在所有结缔组织生成细胞中以低水平检测到它，因此它可能在结缔组织中发挥一般功能。与分泌到细胞外基质中的大多数胶原蛋白不同，胶原蛋白 XIII 包含跨膜结构域，并且该蛋白质已定位于质膜。该基因的转录本经历复杂而广泛的剪接，涉及至少八个外显子。与其他胶原蛋白一样，胶原蛋白 XIII 是三聚体；目前尚不清楚该三聚体是否由一种或多种 α 链异构体组成。已经描述了许多选择性剪接的转录本变体，但其中一些的全长性质尚未确定。[RefSeq 提供，2008 年 7 月]

This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]