FRA10AC1

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

Description

FRA10A associated CGG repeat 1

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10 (93667883 - 93702592)

Ensembl ID

ENSG00000148690  (ver. 103.38)

Orthologs

Mouse Fra10ac1: ENSMUSG00000054237

UniProt

Q70Z53

neXtProt

NX_Q70Z53

Human splice variants
Mouse splice variants

Protein structure