Gene: UFSP2

Alternate names for this Gene: BHD|C4orf20|SEMDDR

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.1

Description of this Gene: UFM1 specific peptidase 2

Type of Gene: protein-coding

Gene: C4orf47

Alternate names for this Gene:

Gene Summary:

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Description of this Gene:

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rs1554022725 in UFSP2;C4orf47 gene and HIP DYSPLASIA, BEUKES TYPE PMID 28892125 2018 Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

rs1554022725 in UFSP2;C4orf47 gene and Hip Dysplasia PMID 28892125 2018 Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

rs1554022725 in UFSP2;C4orf47 gene and SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE PMID 28892125 2018 Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

PMID 21228277 2011 Structure of ubiquitin-fold modifier 1-specific protease UfSP2.