UFSP2

Chr 4ADAR

UFM1 specific peptidase 2

Also known as: BHD, C4orf20, DEE106, SEMDDR

NCBI Gene: 55325 ENSG00000109775 UniProt: Q9NUQ7 OMIM: 611482

The protein is a thiol-dependent isopeptidase that cleaves UFM1 (ubiquitin-fold modifier 1) from conjugated target proteins and processes UFM1 precursors, playing a critical role in cellular protein modification and ribosome recycling. Mutations cause developmental and epileptic encephalopathy, spondyloepimetaphyseal dysplasia, and Beukes hip dysplasia, affecting both neurological development and skeletal systems. The gene shows extreme intolerance to loss-of-function variants (pLI near 1.0) and follows both autosomal dominant and autosomal recessive inheritance patterns.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneReviews OMIM ResearchGenerating clinical summary…