FRG1 Chromosome 4
FSHD region gene 1
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What This Gene Does
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]
Associated Conditions (1)
Pulmonary artery atresia
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS17425208 | Health Risk | Pathogenic | Pulmonary artery atresia, Pulmonary artery atresia |