Primary Identifier | IPR042768 | Type | Family |
Short Name | MNX1/Ceh-12 |
description | This entry represents a group of homeobox proteins, including Motor neuron and pancreas homeobox protein 1 (MNX1) from mammals and Ceh-12 from C. elegans. Mutations in the MNX1 gene cause Currarino syndrome (CURRAS), a triad composed of partial sacral agenesis with intact first sacral vertebra ("sickle-shaped sacrum"), presacral mass, and anorectal malformations []. |