FRG1 gene

FSHD region gene 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B.

From NCBI Gene:

  • Facioscapulohumeral muscular dystrophy

From UniProt:

Facioscapulohumeral muscular dystrophy 1 (FSHD1): A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. [MIM:158900]

Cytogenetic Location: 4q35.2, which is the long (q) arm of chromosome 4 at position 35.2

Molecular Location: base pairs 189,940,819 to 189,963,204 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q35.2, which is the long (q) arm of chromosome 4 at position 35.2
  • FRG1A
  • FSG1