MAB21L1
Description
The MAB21L1 (mab-21 like 1) is a protein-coding gene located on chromosome 13.
MAB21L1 is a human protein encoded by the MAB21L1 gene, analogous to the C. elegans MAB-21 gene that determines cell fate. It is likely involved in eye and cerebellum development. Expansion of a trinucleotide repeat region in the 5' UTR is hypothesized to contribute to a range of psychiatric disorders.
MAB21L1 is a putative nucleotidyltransferase essential for various aspects of embryonic development, including normal eye development. Its nucleotidyltransferase activity in vivo remains unclear, but it binds single-stranded RNA.
MAB21L1 is also known as CAGR1, COFG, Nbla00126.
Associated Diseases
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- Cerebellar, ocular, craniofacial, and genital syndrome
