The DUF1669 domain of FAM83H is required for its localization to nuclear speckles.

ABSTRACT: Autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI) is caused by mutations in the FAM83H gene. Mutated FAM83H genes encode truncated FAM83H proteins with amino acid lengths between amino acids 1-286 and 1-693, in contrast to wild-type FAM83H (1-1179). Deletion of the C-terminus of FAM83H results in its subcellular translocation from the cytoplasmic compartment to the nuclear speckles, where splicing factors accumulate. However, the amino acid region of FAM83H required for nuclear speckle localization has not yet been determined, and whether all FAM83H-truncated proteins associated with ADHCAI localize to nuclear speckles remains unknown. Here, we examined the subcellular localization of FAM83H mutant proteins with truncations or deletions at various amino acid positions. Dele

SUBMITTER: Kuga T 

PROVIDER: S-EPMC11986100 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature