FAM86B1
FAM86B1: An Intriguing Gene with Diverse Roles and Disease Associations
Description
FAM86B1 (family with sequence similarity 86 member B1) is a gene located on chromosome 20q13.12. It encodes a protein of 366 amino acids that belongs to the FAM86 family of proteins, which are characterized by the presence of a conserved FAM86 domain. FAM86B1 is widely expressed in various tissues and cell types, including the liver, kidney, pancreas, and brain.
Associated Diseases
Mutations in the FAM86B1 gene have been linked to several human diseases, including:
- Infantile-onset epileptic encephalopathy: This severe neurological disorder is characterized by seizures that begin in infancy, developmental delays, and intellectual disability. Mutations in FAM86B1 are one of the most common genetic causes of this condition.
- Infantile myoclonic epilepsy: A rare type of epilepsy characterized by frequent, brief, and jerking muscle contractions.
- Developmental and epileptic encephalopathy: A spectrum of neurological disorders characterized by developmental delays, seizures, and other neurological problems. FAM86B1 mutations have been identified in some cases of this condition.
Did you Know ?
Approximately 1 in 20,000 individuals is affected by infantile-onset epileptic encephalopathy caused by FAM86B1 mutations, making it a relatively rare disorder.
