FRRS1L gene

ferric chelate reductase 1 like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2016]

From UniProt:

Important modulator of glutamate signaling pathway.

From NCBI Gene:

  • Epileptic encephalopathy, early infantile, 37

From UniProt:

Epileptic encephalopathy, early infantile, 37 (EIEE37): A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE37 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. [MIM:616981]

Cytogenetic Location: 9q31.3, which is the long (q) arm of chromosome 9 at position 31.3

Molecular Location: base pairs 109,136,188 to 109,167,291 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q31.3, which is the long (q) arm of chromosome 9 at position 31.3
  • C9orf4
  • CG-6
  • CG6
  • EIEE37