JPH1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human JPH1 wild-type allele is located in the vicinity of 8q21.11 and is approximately 87 kb in length. This allele, which encodes junctophilin-1 protein, plays a role in the formation of the skeletal muscle triad, a cellular structure involved in coupling excitation and contraction in muscle cells. Mutations in the gene are associated with congenital myopathy 25 and can act as a modifier of autosomal dominant axonal Charcot-Marie-Tooth disease type 2K.

**Synonyms:** - CMT2K - CMYO25 - JP-1 - JP1 - Junctophilin1 Gene - Junctophilin1 wt Allele