Gene Symbol | HMGB3 |
Entrez Gene ID | 3149 |
Full Name | high mobility group box 3 |
Synonyms | HMG-2a,HMG-4,HMG2A,HMG4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. |
Disorder MIM: | |
Disorder Html: | ?Microphthalmia, syndromic 13, 300915 (3) |