FRRS1L

This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37.

Full Name

Ferric Chelate Reductase 1 Like

Function

Important modulator of glutamate signaling pathway.

Biological Process

Regulation of glutamate receptor signaling pathway Source: UniProtKB
Regulation of postsynaptic membrane neurotransmitter receptor levels Source: GO_Central

Cellular Location

Cell membrane; Synapse

Involvement in disease

Developmental and epileptic encephalopathy 37 (DEE37):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE37 is an autosomal recessive, severe form manifesting in the first years of life. Affected individuals show hyperkinetic movement disorder with choreoathetosis, spasticity, rigidity, mental retardation, absent speech, and impaired volitional movements.

Topology

Helical: 322-342