Gene Symbol | AMBN |
Entrez Gene ID | 258 |
Full Name | ameloblastin |
Synonyms | AI1F |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]. |
Disorder MIM: | |
Disorder Html: | Amelogenesis imperfecta, type IF, 616270 (3) |