Protein mab-21-like 2 (MAB21L2)

Protein mab-21-like 2 (MAB21L2) is a member of the male-abnormal 21-like (MAB21L) protein family implicated in vertebrate embryonic development, notably in eye formation, neural tube development, and axis specification[2][3]. The protein localizes primarily to the nucleus, where it acts as a transcriptional repressor, physically interacting with SMAD1 and modulating the TGF-β/BMP4 signaling pathways during development[3]. Pathogenic variants in the *MAB21L2* gene cause a spectrum of ocular developmental defects including microphthalmia, anophthalmia, and coloboma, and can result in syndromic malformations (e.g., MCOPS14)[2]. While structurally related to nucleotidyltransferases, MAB21L2’s enzymatic activity remains unproven; evidence supports a role in transcriptional regulation rather than classical enzyme activity[2][3]. Several protein partners, including heat shock proteins (HSPA5, HSPA8), have been identified as interactors, potentially impacting protein homeostasis in normal and mutant states[2]. There are currently no therapeutic drugs targeting MAB21L2, and its main disease relevance is as a cause of developmental syndromes.

Other names

MAB21L2MCOPS14MCSKS14Protein mab-21-like 2mab-21-like 2

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