Putative nucleotidyltransferase MAB21L1 (MAB21L1)

Putative nucleotidyltransferase MAB21L1 is an evolutionarily conserved protein implicated in key cell fate decisions during embryonic development. It features high structural homology to cGAS (cyclic GMP-AMP synthase) but differs functionally; its true enzymatic activity (if any) remains unconfirmed, and it is not considered an established nucleotidyltransferase. MAB21L1 mainly localizes to the nucleus in tissues such as the lens placode, where it modulates expression of genes critical for lens formation and DNA/nucleotide metabolism. In humans and model organisms, mutations in MAB21L1 cause syndromic developmental disorders, particularly affecting the eye, brain, craniofacial, and genital structures (COFG syndrome). There is currently no evidence for MAB21L1 as a direct drug target, and no drugs are known to interact specifically with this protein. Its mechanism, partners, and potential as a biomarker or therapeutic target are largely undetermined. It is categorized structurally with proteins containing a nucleotidyltransferase-like domain, although its activity is likely regulatory and developmental rather than enzymatic.

Other names

CAGR1Nbla00126COFGmab-21-like protein 1Protein mab-21-like 1MAB21L1Putative nucleotidyltransferase MAB21L1