Gene Symbol | SNIP1 |
Entrez Gene ID | 79753 |
Full Name | Smad nuclear interacting protein 1 |
Synonyms | PML1,PMRED |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3) |