FRRS1L - ferric chelate reductase 1 like Gene
Also Known as CG6; CG-6; DEE37; C9orf4; EIEE37
Species: Homo sapiens
About FRRS1L
This gene has 6 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 11.1), ovary (RPKM 3.9) and 4 other tissues.
Summary
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 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_014334.4 | NP_055149.3 | DOMON domain-containing protein FRRS1L precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in regulation of glutamate receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
27236917 | GOA |
FRRS1L Protein Structure
DOMON: DOMON domain (169 - 283)
- 0
- 100
- 200
- 300
- 344 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DOMON domain-containing protein FRRS1L |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy 37 |
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| Choreatic Disease |
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| Autosomal Recessive Non-Syndromic Intellectual Disability |
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| Continuous Spike-Wave During Slow Sleep Syndrome |
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| Encephalopathy |
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| Chronic Inflammatory Demyelinating Polyneuritis |
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| Dysautonomia |
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| Epilepsy, Idiopathic Generalized 14 |
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| Huntington Disease-Like 1 |
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| Early Infantile Epileptic Encephalopathy |
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| Japanese Spotted Fever |
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| Developmental And Epileptic Encephalopathy |
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| Zellweger Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | FRRS1L | RGD | RGD:1309978 |
| Macaca mulatta | FRRS1L | VGNC | VGNC:72717 |
| Felis catus | FRRS1L | VGNC | VGNC:62368 |
| Bos taurus | FRRS1L | VGNC | VGNC:29119 |
| Canis familiaris | FRRS1L | VGNC | VGNC:49676 |
| Mus musculus | FRRS1L | MGD | MGI:2442704 |
| Others | FRRS1L | NCBI |