GJC2 gene

gap junction protein gamma 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Leukodystrophy, hypomyelinating, 2
  • Lymphedema, hereditary, IC
  • Spastic paraplegia 44, autosomal recessive

From UniProt:

Lymphedema, hereditary, 1C (LMPH1C): 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. [MIM:613480]

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. [MIM:608804]

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. [MIM:613206]

Cytogenetic Location: 1q42.13, which is the long (q) arm of chromosome 1 at position 42.13

Molecular Location: base pairs 228,149,714 to 228,159,826 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q42.13, which is the long (q) arm of chromosome 1 at position 42.13
  • CX46.6
  • Cx47
  • GJA12
  • HLD2
  • LMPH1C
  • PMLDAR
  • SPG44