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- Table of Contents
Facts about Gap junction gamma-2 protein.
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Human | |
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Gene Name: | GJC2 |
Uniprot: | Q5T442 |
Entrez: | 57165 |
Belongs to: |
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connexin family |
connexin46.6; connexin-46.6; connexin-47; CX46.6; Cx47; Gap junction alpha-12 protein; gap junction gamma-2 protein; gap junction protein, alpha 12, 47kDa; gap junction protein, gamma 2, 47kDa; GJA12connexin 47; HLD2; LMPH1C; PMLDAR; SPG44MGC105119
Mass (kDA):
47.002 kDA
Human | |
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Location: | 1q42.13 |
Sequence: | 1; NC_000001.11 (228149930..228159826) |
Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
PMID: 15192806 by Uhlenberg B., et al. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
PMID: 19056803 by Orthmann-Murphy J.L., et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.