Total Treacle Cell-Based Colorimetric ELISA Kit
- 货号：KA3712C
- 应用：ELISA
- 种属：Human;Mouse
- 其他名称：
- Treacle protein (Treacher Collins syndrome protein)
- 背景：
- disease:Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS) [MIM:154500]. TCS is an autosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000 live births. The clinical features of TCS are bilaterally symmetrical and include: (1) abnormalities of the external ears, atresia of the external ear canals, and malformation of the middle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandible and zygomatic complex; (4) cleft palate.,function:May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 LisH domain.,
- 功能：
- skeletal system development, transcription, transcription, DNA-dependent, transcription from RNA polymerase I promoter, rRNA transcription, RNA biosynthetic process, transcription of nuclear rRNA large RNA polymerase I transcript,
- 细胞定位：
- Nucleus, nucleolus .
