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与 Wnt信号通路相关因子介绍--SOX9

2022.7.20
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zhaoqisun

致力于为分析测试行业奉献终身

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]

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