The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent concentration. Predicted molecular weight: 47 kDa.
Use at an assay dependent concentration.
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.
Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.
Involvement in disease
Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1. HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity. Defects in GJC2 are the cause of spastic paraplegia autosomal recessive type 44 (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. Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C) [MIM:613480]. LMPH1C is 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.
Belongs to the connexin family. Gamma-type subfamily.