background:
Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes.
Function:
Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes.
Subcellular Location:
Nucleus (Potential).
DISEASE:
Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male-to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage.
Defects in SOX9 are the cause of 46,XX sex reversal type 2 (SRXX2) [MIM:278850]. SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal).
Similarity:
Contains 1 HMG box DNA-binding domain.
Database links:
Entrez Gene: 374148 Chicken
Entrez Gene: 6662 Human
Entrez Gene: 20682 Mouse
Entrez Gene: 140586 Rat
Omim: 608160 Human
SwissProt: P48434 Chicken
SwissProt: P48436 Human
SwissProt: Q04887 Mouse
Unigene: 647409 Human
Unigene: 281287 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Sox9是软骨形成过程中一个十分关键的转录因子，虽然已经有研究表明骨形成蛋白2(bone morphogenetic protein 2,BMP2)能诱导Sox9的表达。
有学者认为；Sox9蛋白很可能与椎间盘退变有着密切的关系，Sox9是胶原蛋白合成过程中的一个重要的转录因子，且在软骨的发育、成熟过程中对胶原蛋白有着正向调控作用，Sox9蛋白在男性性腺调节睾丸发育中也有一定的作用。
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