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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]
FRRS1L (Ferric Chelate Reductase 1 Like) is a Protein Coding gene. Diseases associated with FRRS1L include Epileptic Encephalopathy, Early Infantile, 37 and Chorea, Childhood-Onset, With Psychomotor Retardation. An important paralog of this gene is FRRS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0099072 | regulation of postsynaptic membrane neurotransmitter receptor levels | IEA,IBA | 21873635 |
GO:1900449 | regulation of glutamate receptor signaling pathway | IMP | 27236917 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FRRS1L 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FRRS1L 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FRRS1L 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FRRS1L 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FRRS1L 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Frrs1l 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Frrs1l 30 |
|
||
Chicken (Gallus gallus) |
Aves | FRRS1L 31 |
|
OneToOne | |
C9ORF4 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | FRRS1L 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490518 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100536668 30 |
|
||
FRRS1L 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638945 | Uncertain Significance: Epileptic encephalopathy, early infantile, 37 | 109,167,233(-) | C/A | MISSENSE_VARIANT | |
643001 | Uncertain Significance: Epileptic encephalopathy, early infantile, 37 | 109,167,008(-) | C/A | MISSENSE_VARIANT | |
644118 | Uncertain Significance: Epileptic encephalopathy, early infantile, 37 | 109,147,076(-) | A/T | MISSENSE_VARIANT | |
646195 | Uncertain Significance: Epileptic encephalopathy, early infantile, 37 | 109,137,543(-) | G/A | MISSENSE_VARIANT | |
649021 | Uncertain Significance: Epileptic encephalopathy, early infantile, 37 | 109,137,597(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3307202 | CNV | mobile element insertion | 20981092 |
esv3402109 | CNV | insertion | 20981092 |
esv3621429 | CNV | loss | 21293372 |
esv3621430 | CNV | loss | 21293372 |
nsv1077170 | CNV | deletion | 25765185 |
nsv1126916 | CNV | deletion | 24896259 |
nsv1137495 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, early infantile, 37 |
|
|
chorea, benign hereditary |
|
|
chorea, childhood-onset, with psychomotor retardation |
|
|
visual epilepsy |
|
|
autosomal recessive non-syndromic intellectual disability |
|
|