AMBN gene

ameloblastin

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in the mineralization and structural organization of enamel.

From NCBI Gene:

  • AMELOGENESIS IMPERFECTA, TYPE IF

From UniProt:

Amelogenesis imperfecta 1F (AI1F): A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition. [MIM:616270]

Cytogenetic Location: 4q13.3, which is the long (q) arm of chromosome 4 at position 13.3

Molecular Location: base pairs 70,592,258 to 70,607,288 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q13.3, which is the long (q) arm of chromosome 4 at position 13.3