CRTAC1 - cartilage acidic protein 1 Gene

中文名称：软骨酸性蛋白 1

种属: Homo sapiens

同用名: ASPIC; CEP68; LOTUS; ASPIC1; CEP-68

关于 CRTAC1

功能概要

该基因编码一种糖基化的细胞外基质蛋白，该蛋白存在于关节深区软骨的域间基质中。该蛋白质用作标记物，以区分培养中的软骨细胞与成骨细胞和间充质干细胞。 FG-GAP 基序和 RGD 整合素结合基序的存在表明该蛋白可能参与细胞-细胞或细胞-基质相互作用。已在 1 型神经纤维瘤病相关血管球瘤中观察到该基因的拷贝数改变。可变剪接导致多个转录本变体。[RefSeq 提供，2011 年 8 月]

This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]