Junctophilin-3 (JPH3) is a protein residing in humans that is encoded by the JPH3 gene. The gene is approximately 97 kilobases long and is located at...
7 KB (824 words) - 23:38, 22 May 2024
common HD-like syndrome and is caused by CTG/CAG triplet expansions in the JPH3 gene encoding junctophilin-3. It is almost exclusively restricted to populations...
4 KB (353 words) - 20:17, 17 May 2023
HGNC:28853 Q8TAC2 7917 JPH1 HGNC:14201 Q9HDC5 7918 JPH2 HGNC:14202 Q9BR39 7919 JPH3 HGNC:14203 Q8WXH2 7920 JPH4 HGNC:20156 Q96JJ6 7921 JPT1 HGNC:14569 Q9UK76...
277 KB (17 words) - 15:46, 9 May 2024
for JPH2 (JP-2), Junctophilin-2; the gene and the protein it encodes for JPH3 (JP-3), Junctophilin-3; the gene and the protein it encodes for JPH4 (JP-4)...
416 bytes (104 words) - 00:27, 10 January 2022
syndrome type 2, an autosomal dominant condition caused by mutations in JPH3 that closely resembles Huntington's disease. Bassen-Kornzweig disease, or...
15 KB (1,385 words) - 17:10, 6 April 2024
the junctophilin gene family (the other members of the family are JPH1, JPH3, and JPH4) and is the predominant isoform in cardiac tissue, but is also...
7 KB (932 words) - 00:31, 5 October 2022
Huntington disease-like 1; 603218; PRNP Huntington disease-like 2; 606438; JPH3 Hutchinson–Gilford progeria syndrome; 176670; LMNA Hyalinosis, infantile...
234 KB (18,877 words) - 15:43, 9 May 2024