GJC2 Antibody – Mouse Monoclonal

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]

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. Ref.5

Subunit structure: A connexon is composed of a hexamer of connexins. Interacts with TJP1

By similarity.

Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction › gap junction.

Tissue specificity: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles. Ref.5

Involvement in disease: Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]: 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. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.7Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480]: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.8

Sequence similarities: Belongs to the connexin family. Gamma-type subfamily.

Caution: It is uncertain whether Met-1 or Met-4 is the initiator.

Sequence caution: The sequence AAB94511.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence AAH35840.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.