MAM Domain Containing Protein 2 (MAMDC2)

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids.

By searching for genes in a region of chromosome 9 associated with Kabuki syndrome, Kuniba et al. (2009) identified the MAMDC2 gene. The protein contains a MAM (mephrin, A5 antigen, protein tyrosine phosphatase mu) domain. No disease-associated changes were detected in MAMDC2.Kuniba et al. (2009) showed that the MAMDC2 gene contains at least 7 exons.By genomic sequence analysis, Kuniba et al. (2009) mapped the MAMDC2 gene to chromosome 9q21.11.