Gene Symbol | ZNF148 |
Entrez Gene ID | 7707 |
Full Name | zinc finger protein 148 |
Synonyms | BERF-1,BFCOL1,GDACCF,HT-BETA,ZBP-89,ZFP148,pHZ-52 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]. |
Disorder MIM: | |
Disorder Html: | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3) |