Cartilage oligomeric matrix protein (COMP) is an important extracellular matrix protein primarily functioning in the musculoskeletal tissues and especially endochondral bone growth. Mutations in COMP cause the skeletal dysplasia pseudoachondroplasia (PSACH) that is characterized by short limbs and fingers, joint laxity, and abnormalities but a striking lack of skull and facial abnormalities.

中文翻译：

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突变 COMP 塑造了小鼠和人类头骨和面部结构的生长和发育。

软骨寡聚基质蛋白 (COMP) 是一种重要的细胞外基质蛋白，主要作用于肌肉骨骼组织，尤其是软骨内骨生长。COMP中的突变导致骨骼发育不良假性软骨发育不全 (PSACH)，其特征是四肢和手指短、关节松弛和异常，但颅骨和面部异常明显缺乏。