FRRS1L

FRRS1L
Identifiers
Aliases	FRRS1L, C9orf4, CG-6, CG6, ferric chelate reductase 1 like, EIEE37, DEE37
External IDs	OMIM: 604574; MGI: 2442704; GeneCards: FRRS1L
Gene location (Human) Chr. Chromosome 9 (human) Band 9q31.3 Start 109,130,293 bp End 109,167,249 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 B3 Start 56,957,173 bp End 56,990,391 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus Brodmann area 23 orbitofrontal cortex frontal pole postcentral gyrus Brodmann area 10 superior frontal gyrus paraflocculus of cerebellum entorhinal cortex endothelial cell Top expressed in cerebellar vermis lobe of cerebellum primary motor cortex Region I of hippocampus proper prefrontal cortex cingulate gyrus amygdala medial geniculate nucleus anterior amygdaloid area lateral geniculate nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function Cellular component integral component of membrane cell junction plasma membrane synapse membrane cellular component Biological process regulation of glutamate receptor signaling pathway regulation of postsynaptic membrane neurotransmitter receptor levels Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 23732 230235 Ensembl ENSG00000260230 ENSMUSG00000045589 UniProt Q9P0K9 B1AXV0 RefSeq (mRNA) NM_014334 NM_001142965 RefSeq (protein) NP_055149 NP_001136437 Location (UCSC) Chr 9: 109.13 – 109.17 Mb Chr 4: 56.96 – 56.99 Mb PubMed search
Wikidata
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Ferric chelate reductase 1-like is a protein that in humans is encoded by the FRRS1L gene. This protein makes up part of a type of AMPA receptor involved in communication between cells in the brain. Loss-of-function mutations to FRRS1L are associated with early infantile epilepsy, developmental delay, progressive dyskinesia, diffuse hypotonia, and global loss of function.