Recombinant Human Gap junction gamma-2 protein (GJC2), Truncated

Uniprot Id

Q5T442

Target Species

Human

Target Name

GJC2

Target Full Name

Gap junction gamma-2 protein

Target Function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems.

Target Involvement

Leukodystrophy, hypomyelinating, 2 (HLD2); Spastic paraplegia 44, autosomal recessive (SPG44); Lymphedema, hereditary, 1C (LMPH1C)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Target Protein Families

Connexin family, Gamma-type subfamily

Target Tissue Specificity

Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.

Target Synonyms

GJC2; GJA12; Gap junction gamma-2 protein; Connexin-46.6; Cx46.6; Connexin-47; Cx47; Gap junction alpha-12 protein

Target Background

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.