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GJC2

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Identifiers
SymbolsGJC2 ; CX46.6; Cx47; GJA12; HLD2; LMPH1C; PMLDAR; SPG44
External IDsOMIM608803 MGI2153060 HomoloGene10715 IUPHAR: 731 GeneCards: GJC2 Gene
Orthologs
SpeciesHumanMouse
Entrez57165118454
EnsemblENSG00000198835ENSMUSG00000043448
UniProtQ5T442Q8BQU6
RefSeq (mRNA)NM_020435NM_080454
RefSeq (protein)NP_065168NP_536702
Location (UCSC)Chr 1:
228.34 – 228.35 Mb
Chr 11:
59.18 – 59.18 Mb
PubMed search[1][2]

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.[1]

Function

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.[1]

Clinical significance

Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.[1]

Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema.

References

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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