TSHZ1 Antibody – Rabbit Polyclonal

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]

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: Transcription factor; DNA-binding; C2H2-type zinc finger protein

Chromosomal Location of Human Ortholog: 18q22.3

Cellular Component: nucleus

Molecular Function: DNA binding; metal ion binding

Biological Process: anterior/posterior pattern formation; regulation of transcription, DNA-dependent; transcription, DNA-dependent; middle ear morphogenesis; soft palate development

Disease: Aural Atresia, Congenital