FRRS1L

FRRS1L
Identifiers
AliasesFRRS1L, C9orf4, CG-6, CG6, ferric chelate reductase 1 like, EIEE37, DEE37
External IDsOMIM: 604574; MGI: 2442704; HomoloGene: 87703; GeneCards: FRRS1L; OMA:FRRS1L - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 4: 56.96 – 56.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ferric chelate reductase 1-like is a protein that in humans is encoded by the FRRS1L gene.[5] This protein makes up part of a type of AMPA receptor involved in communication between cells in the brain.[5][6] Loss-of-function mutations to FRRS1L are associated with early infantile epilepsy, developmental delay, progressive dyskinesia, diffuse hypotonia, and global loss of function.[5][6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000260230Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045589Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "FRRS1L ferric chelate reductase 1 like [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
  6. ^ a b "What is Frizzle (FRRS1L) Explore Treatment Options & Support Research". Finding Hope for FRRS1L.