1. Gene
  2. FRRS1L - ferric chelate reductase 1 like Gene

FRRS1L - ferric chelate reductase 1 like Gene

Homo sapiens

Also known as CG6; CG-6; DEE37; C9orf4; EIEE37

Gene ID: 23732 | Gene type: protein coding

About FRRS1L

Cytogenetic location: 9q31.3 Genomic coordinates (GRCh38): 9:109,130,293-109,167,249 (from NCBI)

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

FRRS1L Protein Structure

DOMON

DOMON: DOMON domain (169 - 283)

  • 0
  • 100
  • 200
  • 300
  • 344 a.a.
Protein Preferred Names Protein Names

DOMON domain-containing protein FRRS1L

brain protein CG-6

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 37

DEE37

Epileptic Encephalopathy, Early Infantile, 37

Eiee37

Developmental And Epileptic Encephalopathy, 37

Early Infantile Epileptic Encephalopathy 37

Encephalopathy, Epileptic, Early Infantile, Type 37

Choreatic Disease

Chorea

Hereditary Chorea

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Continuous Spike-Wave During Slow Sleep Syndrome

Csws

Cswss Syndrome

Continuous Spikes And Waves During Sleep

Continuous Spikes And Waves During Slow-Wave Sleep

Epileptic Encephalopathy With Continuous Spike-And-Wave During Slow Sleep

Continuous Spike And Waves During Slow Sleep

Continuous Spike And Waves During Slow-Wave Sleep Syndrome

Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Chronic Inflammatory Demyelinating Polyneuritis

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Dysautonomia
Epilepsy, Idiopathic Generalized 14

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

Huntington Disease-Like 1

HDL1

Huntington-Like Neurodegenerative Disorder 1

Hln1

Huntington'S Disease-Like 1

Early-Onset Prion Disease With Prominent Psychiatric Features

Huntington-Like Neurodegenerative Disorder, Autosomal Dominant

Prion Disease, Early-Onset, With Prominent Psychiatric Features

Autosomal Dominant Huntington-Like Neurodegenerative Disorder

Huntington Disease-Like, Type 1

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Japanese Spotted Fever

Oriental Spotted Fever

Rickettsia Japonica Spotted Fever

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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