The TSHZ1 Polyclonal Antibody (PAC012955) is a valuable tool for researchers studying TSHZ1, a transcriptional repressor that plays a key role in development and differentiation processes. This antibody, produced in rabbits, exhibits high specificity for human samples and has been validated for use in Western blotting applications. By binding to the TSHZ1 protein, this antibody allows for precise detection and analysis in a variety of cell types, making it an essential tool for studies in developmental biology and cancer research.
TSHZ1 is a critical regulator of gene expression, controlling processes such as cell fate determination and tissue patterning. Dysregulation of TSHZ1 has been linked to developmental disorders and cancer, making it a promising target for therapeutic intervention. Investigating the function of TSHZ1 is essential for gaining insights into these diseases and developing targeted treatments that could potentially restore normal cellular function and tissue organization.
TSHZ1: Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). Defects in TSHZ1 are the cause of congenital aural atresia (CAA). A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity. Belongs to the teashirt C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.Protein type: C2H2-type zinc finger protein; Transcription factor; DNA-bindingChromosomal Location of Human Ortholog: 18q22.3Disease: Aural Atresia, Congenital
UniProt Protein Details:
NCBI Summary:
This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]