UBR7
Homo sapiens
Gene Name: ubiquitin protein ligase E3 component n-recognin 7 (putative)
Aliases: C14orf130, FLJ10483, MGC9518
Chromosome No: 14
Chromosome Band: 14q32.12
Genetic Category: Rare Single Gene variant
Aliases: C14orf130, FLJ10483, MGC9518
Chromosome No: 14
Chromosome Band: 14q32.12
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare mutation in the UBR7 gene has been identified with ASD (Najmabadi et al., 2011).
Molecular Function
E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific amino-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
