SENP7 Chromosome 3
SUMO specific peptidase 7
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What This Gene Does
The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]
Gene Info
Gene Group
SUMO specific peptidases
Locus Type
gene with protein product
Location
3q12.3
Ensembl
ENSG00000138468
Associated Conditions (1)
arthrogryposis multiplex congenita with neutropenia and early respiratory failure
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS777487611 | Health Risk | Likely pathogenic | arthrogryposis multiplex congenita with neutropenia and early respiratory failure, arthrogryposis multiplex congenita with neutropenia and early respiratory failure |