FAM83H Regulates Postnatal T Cell Development Through Thymic Stroma Organization.

ABSTRACT: Family of Sequence Similarity 83H (FAM83H/SACK1H) is primarily expressed in epithelial cells, where it interacts with casein kinase 1 (CK1) and keratins to regulate cytoskeletal organization, cell proliferation, and vesicular trafficking. Mutations in FAM83H are known to cause amelogenesis imperfecta, highlighting its critical role in enamel formation. We generated Fam83h-deficient mice (Fam83h^{em2(IMPC)Ccpcz}, Fam83h^-/-) and mice lacking a part of the N-terminal CK1-binding domain (Fam83h^∆87/∆87). Consistent with other Fam83h-deficient models, these mice are subviable, smaller in size, and exhibit a sparse, scruffy coat, scaly skin, general weakness, and hypoactivity. Notably, both strains show impaired lymphoid cell development in early postnatal life. In t

SUBMITTER: Ogan BM 

PROVIDER: S-EPMC12811513 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature