該基因編碼的蛋白質與hmg盒類dna結合蛋白的其他成員一起識別ccttgag序列。它在軟骨細胞分化過程中起作用,并與類固醇生成因子1一起調節抗米勒氏激素(amh)基因的轉錄。缺陷導致骨骼畸形綜合征-畸形-畸形-畸形,常伴性反轉。[由RefSeq提供,2008年7月]
The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]