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- Table of Contents
Facts about Junctophilin-3.
JPH3 is brain- specific and appears to have an active part in some specific neurons involved in motor coordination and memory. .
Human | |
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Gene Name: | JPH3 |
Uniprot: | Q8WXH2 |
Entrez: | 57338 |
Belongs to: |
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junctophilin family |
CAGL237; junctophilin 3; junctophilin type 3
Mass (kDA):
81.469 kDA
Human | |
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Location: | 16q24.2 |
Sequence: | 16; NC_000016.10 (87601835..87698156) |
Specifically expressed in brain.
Cell membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity).
PMID: 10891348 by Nishi M., et al. Characterization of human junctophilin subtype genes.
PMID: 11694876 by Holmes S.E., et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.