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. [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.
Subunit:
A connexon is composed of a hexamer of connexins. Interacts with TJP1 (By similarity).
Subcellular Location:
Cell membrane. Cell junction; gap junction.
Tissue Specificity:
Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.
DISEASE:
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.
Similarity:
Belongs to the connexin family. Gamma-type subfamily.
Database links:
Entrez Gene: 57165 Human
Entrez Gene: 118454 Mouse
Entrez Gene: 497913 Rat
Omim: 601763 Human
SwissProt: Q5T442 Human
SwissProt: Q8BQU6 Mouse
SwissProt: Q80XF7 Rat
Unigene: 100072 Human
Unigene: 40016 Mouse
Unigene: 203000 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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