JPH1


Description

The JPH1 (junctophilin 1) is a protein-coding gene located on chromosome 8.

Junctophilin-1 is a protein encoded by the JPH1 gene in humans. It's a key component of junctional complexes, structures found in all excitable cells that facilitate communication between the cell surface and intracellular ion channels. JPH1 has a hydrophobic segment that anchors it to the endoplasmic/sarcoplasmic reticulum membrane, and a cytoplasmic domain that interacts with the plasma membrane. JPH1 belongs to the junctophilin gene family.

JPH1 is also known as CMT2K, JP-1, JP1.

Associated Diseases



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