GJC2 gap junction protein gamma 2
Gene ID: 57165, updated on 5-Mar-2024Gene type: protein coding
Also known as: Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; LMPHM3; PMLDAR
- See all available tests in GTR for this gene
- Go to complete Gene record for GJC2
- Go to Variation Viewer for GJC2 variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 1q42.13
- Sequence:
- Chromosome: 1; NC_000001.11 (228149930..228159826)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GJC2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GJC2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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