UBR1 [SEP] found in taxon
UBR1
The human gene UBR1 encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1.
The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR
and errors in innervation of the acini and islets, correlating to failures of normal apoptotic destruction of damaged cells and constitutive malpresence of proteins. This also applies to other areas affected by deleterious "UBR1" expression, such as the craniofacial area, musculoskeletal and nervous systems, dentition and organs.
Missense, nonsense and splice site mutations of the "UBR1" gene in both parents have been found with JBS, confirming the homozygous nature of the JBS phenotype. Variability of the phenotype, associated with residual "ubiquitin ligase" activity