Amelogenesis imperfecta
Gene: ACP4EnsemblGeneIds (GRCh38): ENSG00000142513
EnsemblGeneIds (GRCh37): ENSG00000142513
OMIM: 606362, Gene2Phenotype
ACP4 is in 2 panels
1 review
Belinda Chong (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Amelogenesis imperfecta, type IJ, MIM#617297
- hypoplastic amelogenesis imperfecta
- OMIM
- 606362
- Clinvar variants
- Variants in ACP4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acp4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ACP4 were set to 28513613; 27843125
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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