GJA12 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. Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2); 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). 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). 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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1q42.13
Cellular Component:  connexin complex; gap junction; integral component of membrane; myelin sheath; paranode region of axon; perikaryon; proximal neuron projection
Molecular Function:  gap junction channel activity involved in cell communication by electrical coupling
Biological Process:  brain development; cell communication by electrical coupling; cell-cell signaling; negative regulation of G1/S transition of mitotic cell cycle; positive regulation of calcium ion transmembrane transport; positive regulation of gene expression; positive regulation of oligodendrocyte progenitor proliferation; regulation of protein phosphorylation; response to toxic substance; transmembrane transport
Disease: Leukodystrophy, Hypomyelinating, 2; Lymphedema, Hereditary, Ic; Spastic Paraplegia 44, Autosomal Recessive
Reference #:  Q5T442 (UniProtKB)
Alt. Names/Synonyms: connexin 47; Connexin-46.6; Connexin-47; connexin46.6; Cx46.6; Cx47; CXG2; Gap junction alpha-12 protein; Gap junction gamma-2 protein; gap junction protein, gamma 2, 47kDa; GJA12; GJC2; HLD2; MGC105119; PMLDAR; SPG44
Gene Symbols: GJC2
Molecular weight: 47,002 Da
Basal Isoelectric point: 7.56  Predict pI for various phosphorylation states
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GJA12

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene