PhenomeGene — Human Disease Gene Website SeriesMAP4K4

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Mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4) is a gene that encodes a serine/threonine protein kinase belonging to the Ste20 family. This kinase includes a kinase domain, an interdomain, and a citron homology (CNH) domain. MAP4K4 is expressed in all tissues, with the highest levels in the brain and testes. This protein is significant in regulating RAS signaling, which is crucial for various developmental processes.

A disorder related to MAP4K4, classified among the RASopathies, is associated with multisystemic involvement and several clinical features, including neurodevelopmental problems and craniofacial abnormalities. To date, approximately 20 cases have been reported worldwide. The inheritance pattern of this disease is autosomal dominant with mostly occurring de novo.