DBR1
Function
Cleaves the 2'-5' phosphodiester linkage at the branch point of excised lariat intron RNA and converts them into linear molecules that can be subsequently degraded, thereby facilitating ribonucleotide turnover (PubMed:10982890, PubMed:16232320, PubMed:2435736). Linked to its role in pre-mRNA processing mechanism, may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis and have an antiviral cell-intrinsic defense function in the brainstem (PubMed:16232320, PubMed:29474921).
Involvement in disease
Encephalitis, acute, infection (viral)-induced, 11
IIAE11
An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis affecting the brainstem and induced by neurotropic viruses, such as herpes simplex virus-1, influenza B virus or norovirus.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Xerosis and growth failure with immune and pulmonary dysfunction syndrome
XGIP
An autosomal recessive disorder characterized by premature birth, severe intrauterine growth deficiency, congenital ichthyosis-like features such as collodion membrane, severe skin peeling and xerosis, and death before the first year of life. Patients also exhibit bronchopulmonary disease, thrombocytopenia, and neutropenia. Additional variable features include cardiac anomalies, seizures, encephalopathy, cholestasis, and cataract.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the lariat debranching enzyme family.
Tissue Specificity
Ubiquitously expressed, strongest expression in the spinal cord and brainstem.
Cellular localization
- Nucleus
Alternative names
Lariat debranching enzyme, DBR1