Putative nucleotidyltransferase MAB21L1

Definition:

Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye. It is unclear whether it displays nucleotidyltransferase activity in vivo. Binds single-stranded RNA (ssRNA).

References:

[1]. A-L Bruel, et al. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. Clin Genet. 2017 Feb;91(2):333-338. [Content Brief]

[2]. Carina C de Oliveira Mann, et al. Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1. Sci Rep. 2016 Jun 8;6:27498. [Content Brief]

[3]. Abolfazl Rad, et al. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome). J Med Genet. 2019 May;56(5):332-339. [Content Brief]

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