MKRN2
Understanding MKRN2: A Comprehensive Guide
Description
MRKN2 is a gene that encodes a protein called makrokine 2. This protein is involved in a wide range of cellular processes, including cell growth, differentiation, and apoptosis. Mutations in the MRKN2 gene have been linked to several rare genetic disorders.
Associated Diseases
Mutations in the MRKN2 gene have been associated with the following disorders:
- Microcephaly, Intellectual Disability, and Seizures (MIDAS): This disorder is characterized by severe intellectual disability, microcephaly (small head size), and seizures.
- Cerebral Atrophy, Deafness, and Hypotonia Syndrome (CADHS): This disorder is characterized by cerebral atrophy (shrinking of the brain), deafness, and muscle weakness.
- Hereditary Spastic Paraplegia 66 (HSP66): This disorder is characterized by progressive weakness and stiffness in the legs, leading to difficulty walking.
- Severe Combined Immunodeficiency (SCID): This disorder is characterized by a severe deficiency in immune system function, leading to recurrent infections.
Did you Know ?
Mutations in the MRKN2 gene are estimated to affect approximately 1 in 100,000 people worldwide.
