SOX9(SRY-box transcription factor 9),癌症关联基因,基因ID:6662,该基因编码的蛋白质与hmg盒类dna结合蛋白的其他成员一起识别ccttgag序列。它在软骨细胞分化过程中起作用,并与类固醇生成因子1一起调节抗米勒氏激素(amh)基因的转录。缺陷导致骨骼畸形综合征-畸形-畸形-畸形,常伴性反转。[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]。