Amelogenesis imperfecta
Gene: ACP4
6 consanguineous, apparently unrelated Turkish families with generalized hypoplastic amelogenesis imperfecta and identified homozygous or compound heterozygous mutations in the ACPT gene that segregated with the disorder in the families. In silico analysis of the tertiary structure of the ACPT extracellular domain showed that the mutations would affect the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization (PMID: 27843125).
ACPT gene is inactivated in mammalian lineages that lack enamel or teeth (PMID: 33552707).Created: 16 Jun 2021, 12:43 a.m. | Last Modified: 16 Jun 2021, 12:43 a.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IJ MIM#617297
Publications
Gene: acp4 has been classified as Green List (High Evidence).
Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IJ, MIM#617297; hypoplastic amelogenesis imperfecta
Publications for gene: ACP4 were set to 28513613; 27843125
gene: ACP4 was added gene: ACP4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP4 were set to 28513613; 27843125 Phenotypes for gene: ACP4 were set to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta