eP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia
Genetics in Medicine(2022)
摘要
The SRY-box 9 (SOX9) gene, located on chromosome 17, encodes a 509 amino acid polypeptide and functions as a transcription factor critical in embryologic development. The SOX9 sequence is highly conserved across mammals, suggesting important regulatory function. It is known to play a role in bone formation and sexual development. The protein consists of several domains, including a dimerization domain, a DNA-binding domain (HMG), and a C-terminal transactivation domain that activates target genes.
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关键词
acampomelic acampomelic dysplasia,rare clinical gene variant,sox9,ep459
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