MAB21L1
Domain
While it shares structure similarities with CGAS, it also features a number of differences. The crystal structure is in inactive conformation and the enzyme would require a conformational change to be active. The nucleotidyltransferase activity is therefore unclear.
Function
Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (PubMed:27103078, PubMed:30487245). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801).
Involvement in disease
Cerebellar, ocular, craniofacial, and genital syndrome
COFG
An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the mab-21 family.
Tissue Specificity
Expressed in brain, cerebellum and skeletal muscle.
Cellular localization
- Nucleus
Alternative names
CAGR1, Nbla00126, MAB21L1, Putative nucleotidyltransferase MAB21L1, Protein mab-21-like 1