Ontology highlight
ABSTRACT:
SUBMITTER: Tekendo-Ngongang C
PROVIDER: S-EPMC6690755 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Tekendo-Ngongang Cedrik C Kruszka Paul P Martinez Ariel F AF Muenke Maximilian M
Clinical genetics 20190715 3
Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta-globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator-2-containing complex (ASCOM). Heterozygous germline mutations in the KMT2D gene are known to cause Kabuki syndrome (OMIM 147920), a developmental multisystem disorder. Neither holoprosencephaly nor other defects in human forebrain development have been previou ...[more]