Gene Symbol | TWIST2 |
Entrez Gene ID | 117581 |
Full Name | twist family bHLH transcription factor 2 |
Synonyms | AMS,BBRSAY,DERMO1,FFDD3,SETLSS,bHLHa39 |
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 basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]. |
Disorder MIM: | |
Disorder Html: | Focal facial dermal dysplasia 3, Setleis type, 227260 (3); Barber-Say syndrome, 209885 (3); Ablepharon-macrostomia syndrome, 200110 (3) |