Family With Sequence Similarity 83, Member H (FAM83H)

FAM83H encodes a deduced 1,179-amino acid protein with a calculated molecular mass of 127 kD. RT-PCR analysis demonstrated that FAM83H is expressed in ameloblasts and odontoblasts. EST database analysis indicated ubiquitous expression of FAM83H in human tissues.Fam83h was also expressed in odontoblasts and developing alveolar bone. FAM83H may be involved in differentiation of preameloblasts into functional ameloblasts and in enamel matrix calcification.

Affected individuals with truncating mutations of 677 or fewer amino acids presented with a generalized ADHCAI phenotype, whereas those with mutations capable of producing a protein of at least 694 amino acids had an attenuated, localized ADHCAI phenotype.