Bioinformatics Database
AIH3: Amelogenesis imperfecta 3, hypomaturation or hypoplastic type
Cellular Process
Enamel formation
Gene Name
AIH3: Amelogenesis imperfecta 3, hypomaturation or hypoplastic type
Gene ID
201
Gene Sequence
General Description
Amelogenesis imperfecta 3, hypomaturation or hypoplastic type
Alternative titles; symbols
AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY; AIH3, FORMERLY ENAMEL HYPOPLASIA, X-LINKED
Chromosome
Chromosome X
Cytogenetic location
Xq22-q28
Encoded Protein
Function of the protein in oral and tooth development
Aldred et al., (1992) described findings from a family suggesting that one form of amelogenesis imperfecta is determined by a mutation in a gene in the Xq22-q28 region. This gene may be another reflection of homeology of portions of the 2 arms of the X chromosome resulting from an ancient duplication (Aldred et al., 1992).
Dental and Oral Diseases
Amelogenesis imperfecta, type IE, X-linked 2
(OMIM ID: 301201)
Protein Sequence
Mutations
Related Literature
Aldred et al.,(1992): https://doi.org/10.1016/s0888-7543(05)80153-3
