转录因子SOX9蛋白重组兔单抗

SOX9

Transcription factor SOX-9

Interacts with the sumoylation factors ube2i/ubc9 and sumo1.

Nucleus. Cytoplasm (By similarity). Note=Restricted to the nucleus of Sertoli-like cells in the testis, but localizes to the cytoplasm of previtellogenic oocytes in the ovary before being translocated into the nucleus of vitellogenic oocytes (By similarity).

From mid-gastrula (stage 10.5-11), expressed in a ring around the blastopore, with expression decreasing toward the dorsal side. At stage 12, expression around the blastopore decreases and begins to increase lateral to the neural plate in the presumptive neural crest, where expression dramatically increases around stage 14. Also expressed in the otic placode as early as stage 13/14. By the tailbud stage expression is restricted to the otic cup and then throughout the otic vesicle, with more intense staining at the dorsal-most region, the prospective region of the semicircular canals and endolymphatic duct. At the early tailbud stage (stage 23), expressed in migrating cranial neural crest cells and in the trunk neural crest. Also expressed in the genital ridges, developing eye, nasal placode and prospective pineal gland. Around stage 25, expression is down-regulated in the trunk neural crest but persists in the migrating cranial crest cells as they populate the pharyngeal arches, otic placode, developing eye, genital ridges and notochord. By stage 31, expression remains strong in the pharyngeal arches. Also expressed in the pancreas; first expressed at stage 25 in the pancreatic anlagen, dorsally in diverticulum. As development proceeds, expression continues in pancreatic tissue, being restricted to ventral and dorsal pancreatic buds.

Sumoylated. Lys-365 is the major site of sumoylation, although sumoylation at Lys-61 also occurs. Sumoylation plays a key role in regulating formation of the neural crest and otic placode.

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).

Contains 1 HMG box DNA-binding domain.

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.