TSHZ1 Chromosome 18
Teashirt zinc finger homeobox 1
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What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes"
Locus Type
gene with protein product
Location
18q22.3
Ensembl
ENSG00000179981
Associated Conditions (2)
Aural atresia
congenital
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2511931791 | Health Risk | Likely pathogenic | Aural atresia, congenital, Aural atresia |