63901107373ENSG00000166801ENSMUSG00000024691Q96PZ2Q9D2L9NM_001312910NM_001312911NM_022074NM_001369455NM_001369456NM_001369457NM_026640NM_001346545NP_001299840NP_071357NP_942144NP_001356386NP_001361733NP_001361777NP_001361778NP_001361779NP_001361780NP_001361781NP_001361782NP_001361783NP_001361784NP_001361785NP_001361786NP_001361787NP_001361788NP_001361789NP_001361790NP_001361791NP_001361792NP_001361793NP_001361794NP_001361795NP_001361796NP_001361797NP_001361798NP_001361799NP_001333474NP_080916Family with sequence similarity 111 member A is a protein that in humans is encoded by the FAM111A gene.
[5] The protein encoded by this gene is cell-cycle regulated, and has nuclear localization.
The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA).
Monoallelic variants in this gene have been associated with dominantly inherited Kenny-Caffey syndrome (KCS; MIM 127000[6]) and the more severe osteocraniostenosis (OCS; MIM 602361[7]), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia.
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