AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout NLS lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue specificity
Ameloblastin (AMBN) is a secreted matrix protein that is critical for the formation of dental enamel and is enamel specific with respect to its essential functions. Biallelic AMBN defects cause non syndromic autosomal recessive amelogenesis imperfecta. Homozygous Ambn mutant mice expressing an internally truncated AMBN protein deposit only a soft mineral crust on the surface of dentin.
Molecular genetics genomic medicine