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]
这个基因编码,是由重组cDNA表达文库的血清学分析所定义的结肠癌抗原。所编码的蛋白质是teashirt C2H2型锌指蛋白家族的成员,并可能参与发育过程的转录调控。在这个基因的突变可以与先天性外耳道闭锁综合症有关。 [由RefSeq的,2012年1月提供]
TSHZ1基因(以及对应的蛋白质)的细胞分布位置:
TSHZ1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
AURAL ATRESIA, CONGENITAL | 0.123257302 | 12 | 2 | BeFree_CLINVAR |
Aortic Aneurysm, Thoracic | 0.004071628 | 15 | 0 | BeFree |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Ataxia, Spinocerebellar | 0.001900093 | 7 | 0 | BeFree |
alpha-Thalassemia | 0.001900093 | 7 | 0 | BeFree |
Spinocerebellar Ataxia Type 2 | 0.001357209 | 5 | 0 | BeFree |
Presenile dementia | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 3 | BeFree |
Plaque, Amyloid | 0.001085767 | 4 | 0 | BeFree |
Cerebral Amyloid Angiopathy | 0.001085767 | 4 | 0 | BeFree |
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