Gene Symbol | GJC2 |
Entrez Gene ID | 57165 |
Full Name | gap junction protein gamma 2 |
Synonyms | CX46.6,Cx47,GJA12,HLD2,LMPH1C,PMLDAR,SPG44 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Leukodystrophy, hypomyelinating, 2, 608804 (3); Spastic paraplegia 44, autosomal recessive, 613206 (3); Lymphedema, hereditary, IC, 613480 (3) |