JPH1 Chromosome 8
Junctophilin 1
Upload your DNA to see your personal genotypes for variants in JPH1.
What This Gene Does
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Junctophilins
Locus Type
gene with protein product
Location
8q21.11
Ensembl
ENSG00000104369
Associated Conditions (2)
Congenital myopathy 25
Congenital myopathy
Key Variants
RS1808301220
Likely pathogenic
Congenital myopathy 25, Congenital myopathy, Congenital myopathy 25
Health Risk
RS2536591325
Likely pathogenic
Congenital myopathy 25, Congenital myopathy, Congenital myopathy 25
Health Risk
RS2536700554
Likely pathogenic
Congenital myopathy 25, Congenital myopathy, Congenital myopathy 25
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1808301220 | Health Risk | Likely pathogenic | Congenital myopathy 25, Congenital myopathy, Congenital myopathy 25 |
| RS2536591325 | Health Risk | Likely pathogenic | Congenital myopathy 25, Congenital myopathy, Congenital myopathy 25 |
| RS2536700554 | Health Risk | Likely pathogenic | Congenital myopathy 25, Congenital myopathy, Congenital myopathy 25 |