DUSP27
Description:
dusp27 (dual-specificity phosphatase 27) is a protein-coding gene that plays a crucial role in cellular signaling pathways, particularly the MAP kinase (mitogen-activated protein kinase) pathway. This pathway regulates various important cellular processes, including cell growth, differentiation, and survival. Mutations in the dusp27 gene have been linked to several diseases.
Associated Diseases:
Mutations in the dusp27 gene have been implicated in the following diseases:
- Charcot-Marie-Tooth disease type 4C (CMT4C): A genetic disorder characterized by progressive weakness and atrophy of the muscles in the arms, legs, and hands.
- Congenital myopathy: A rare condition characterized by muscle weakness and hypotonia (low muscle tone) present at birth.
- Intellectual disability: Intellectual disability ranging from mild to severe can be associated with dusp27 mutations.
- Autism spectrum disorder (ASD): Mutations in dusp27 have been found in some individuals with ASD.
Did you Know ?
Approximately 1 in 50,000 individuals worldwide are affected by CMT4C, the most common disease associated with dusp27 mutations.
