产品名称
Treacle Rabbit Polyclonal Antibody
别名
TCOF1; Treacle protein; Treacher Collins syndrome protein
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6949
Human Swissprot No.
Q13428
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q13428/entry
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=21453
Mouse Swissprot No.
O08784
Mouse Swissprot Link
http://www.uniprot.org/uniprot/O08784
免疫原
The antiserum was produced against synthesized peptide derived from human TCOF1. AA range:41-90
特异性
Treacle Polyclonal Antibody detects endogenous levels of Treacle protein.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. IF 1:200 - 1:1000. ELISA: 1:10000. Not yet tested in other applications.
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008],
组织表达
Brain,Epithelium,Eye,Skin,Testis,Thymus,
细胞定位
Nucleus, nucleolus .
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
