B3GNT5
HTML Blog Post: b3gnt5
Description:
b3gnt5 is a gene that encodes a glycosyltransferase enzyme. This enzyme is responsible for adding a specific type of sugar molecule (N-acetylglucosamine) to proteins. b3gnt5 is expressed in a variety of tissues, including the brain, heart, and kidneys.
Associated Diseases:
Mutations in the b3gnt5 gene have been linked to several genetic disorders, including:
- Congenital disorders of glycosylation type IIi (CDG-IIi): CDG-IIi is a rare metabolic disorder that affects the glycosylation of proteins. Symptoms of CDG-IIi can include intellectual disability, seizures, and developmental delay.
- Infantile-onset spinocerebellar ataxia (IOSCA): IOSCA is a rare neurodegenerative disorder that affects the cerebellum. Symptoms of IOSCA can include difficulty walking, speech problems, and eye movement abnormalities.
- Microcephaly and seizures: Some mutations in the b3gnt5 gene have been associated with microcephaly (small head size) and seizures in children.
Did you Know ?
Mutations in the b3gnt5 gene are estimated to occur in approximately 1 in 100,000 individuals.
