FRG1

Chr 4

FSHD region gene 1

Also known as: FRG1A, FSG1

NCBI Gene: 2483 ENSG00000109536 UniProt: Q14331 OMIM: 601278

The FRG1 protein binds mRNA and localizes to the nucleolus where it may regulate pre-mRNA splicing, ribosomal subunit assembly, and mRNA transport. Mutations cause facioscapulohumeral muscular dystrophy (FSHD), a progressive muscle disorder primarily affecting facial, shoulder, and upper arm muscles. The gene shows minimal constraint against loss-of-function variants and inheritance patterns vary depending on the specific genomic rearrangements involved in FSHD.

OMIM ResearchSummary from RefSeq, UniProt

This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.31

Clinical Summary— FRG1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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