Ontology highlight
ABSTRACT:
SUBMITTER: Boyden LM
PROVIDER: S-EPMC6849088 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
American journal of human genetics 20191017 5
We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic mutations in AP1B1, the gene encoding the β subunit of heterotetrameric adaptor protein 1 (AP-1) complexes, which mediate endomembrane polarization, sorting, and transport. In affected keratinocytes the AP-1 β subunit is lost, and the γ subunit is greatly reduced, demonstrating destabilization of the AP-1 complex. Affected cells and tissue contai ...[more]