POPDC1 Chromosome 6
Popeye domain cAMP effector 1
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What This Gene Does
This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
Associated Conditions (2)
Autosomal recessive limb-girdle muscular dystrophy type 2X
Limb-girdle muscular dystrophy
Key Variants
RS145098126
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
Health Risk
RS1562137622
Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
Health Risk
RS1773614673
Likely pathogenic
Health Risk
RS768248477
Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
Health Risk
RS796206315
Pathogenic/Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X, Limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2X
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145098126 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |
| RS1562137622 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |
| RS1773614673 | Health Risk | Likely pathogenic | — |
| RS768248477 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |
| RS796206315 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2X, Limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2X |