GJC2

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.

Full Name

Gap Junction Protein Gamma 2

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.

Biological Process

Brain development Source: Ensembl
Cell-cell signaling Source: GO_Central
Cell communication by electrical coupling Source: UniProtKB
Negative regulation of G1/S transition of mitotic cell cycle Source: Ensembl
Positive regulation of calcium ion transmembrane transport Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of oligodendrocyte progenitor proliferation Source: Ensembl
Regulation of protein phosphorylation Source: Ensembl
Response to toxic substance Source: Ensembl

Cellular Location

Cell membrane; Gap junction

Involvement in disease

Leukodystrophy, hypomyelinating, 2 (HLD2):
An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity.
Spastic paraplegia 44, autosomal recessive (SPG44):
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Lymphatic malformation 3 (LMPHM3):
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands.

Topology

Cytoplasmic: 1-25
Helical: 26-46
Extracellular: 47-78
Helical: 79-99
Cytoplasmic: 100-216
Helical: 217-237
Extracellular: 238-265
Helical: 266-286
Cytoplasmic: 287-439