FRA10AC1

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FRA10AC1
Identifiers
AliasesFRA10AC1, C10orf4, F26C11.1-like, FRA10A, fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1, FRA10A associated CGG repeat 1
External IDsOMIM: 608866 MGI: 1917817 HomoloGene: 13852 GeneCards: FRA10AC1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081075
NM_027466

RefSeq (protein)

NP_001334641
NP_001334642
NP_001334643
NP_001334644
NP_660289

NP_001074544
NP_081742

Location (UCSC)Chr 10: 93.67 – 93.7 MbChr 19: 38.19 – 38.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FRA10AC1 is a protein that in humans is encoded by the FRA10AC1 gene.[5]

Function[]

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hyper-methylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site.[5]

References[]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054237 - Ensembl, 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 "Entrez Gene: C10orf4 chromosome 10 open reading frame 4".

Further reading[]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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