| 释义 |
- Function
- Clinical significance
- References
- Further reading
{{Infobox_gene}}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. References1. ^1 2 {{cite web | title = Entrez Gene: gap junction protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57165| accessdate = }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Ostergaard P, Simpson MA, Brice G |title=Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. |journal=J. Med. Genet. |volume=48 |issue= 4 |pages= 251–5 |year= 2011 |pmid= 21266381 |doi= 10.1136/jmg.2010.085563 |display-authors=etal}}
- {{cite journal |vauthors=Odermatt B, Wellershaus K, Wallraff A |title=Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS. |journal=J. Neurosci. |volume=23 |issue= 11 |pages= 4549–59 |year= 2003 |pmid= 12805295 |doi= 10.1523/JNEUROSCI.23-11-04549.2003|display-authors=etal}}
- {{cite journal |vauthors=Menichella DM, Goodenough DA, Sirkowski E |title=Connexins are critical for normal myelination in the CNS. |journal=J. Neurosci. |volume=23 |issue= 13 |pages= 5963–73 |year= 2003 |pmid= 12843301 |doi= 10.1523/JNEUROSCI.23-13-05963.2003|display-authors=etal}}
- {{cite journal |vauthors=Salviati L, Trevisson E, Baldoin MC |title=A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. |journal=Neurogenetics |volume=8 |issue= 1 |pages= 57–60 |year= 2007 |pmid= 17031678 |doi= 10.1007/s10048-006-0065-x |display-authors=etal}}
- {{cite journal |vauthors=Ferrell RE, Baty CJ, Kimak MA |title=GJC2 missense mutations cause human lymphedema. |journal=Am. J. Hum. Genet. |volume=86 |issue= 6 |pages= 943–8 |year= 2010 |pmid= 20537300 |doi= 10.1016/j.ajhg.2010.04.010 |pmc=3032064|display-authors=etal}}
- {{cite journal |vauthors=Uhlenberg B, Schuelke M, Rüschendorf F |title=Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. |journal=Am. J. Hum. Genet. |volume=75 |issue= 2 |pages= 251–60 |year= 2004 |pmid= 15192806 |doi= 10.1086/422763 |pmc=1216059|display-authors=etal}}
- {{cite journal |vauthors=Orthmann-Murphy JL, Salsano E, Abrams CK |title=Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. |journal=Brain |volume=132 |issue= Pt 2 |pages= 426–38 |year= 2009 |pmid= 19056803 |doi= 10.1093/brain/awn328 |pmc=2640216|display-authors=etal}}
- {{cite journal |vauthors=Wang J, Wang H, Wang Y |title=Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. |journal=Brain Dev. |volume=32 |issue= 3 |pages= 236–43 |year= 2010 |pmid= 19423250 |doi= 10.1016/j.braindev.2009.03.013 |display-authors=etal}}
- {{cite journal |vauthors=Henneke M, Combes P, Diekmann S |title=GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. |journal=Neurology |volume=70 |issue= 10 |pages= 748–54 |year= 2008 |pmid= 18094336 |doi= 10.1212/01.wnl.0000284828.84464.35 |display-authors=etal}}
- {{cite journal |vauthors=Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS |title=Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. |journal=Mol. Cell. Neurosci. |volume=34 |issue= 4 |pages= 629–41 |year= 2007 |pmid= 17344063 |doi= 10.1016/j.mcn.2007.01.010 |pmc=1937038}}
- {{cite journal |vauthors=Ruf N, Uhlenberg B |title=Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=150B |issue= 2 |pages= 226–32 |year= 2009 |pmid= 18521858 |doi= 10.1002/ajmg.b.30792 }}
- {{cite journal |vauthors=Wolf NI, Cundall M, Rutland P |title=Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. |journal=Neurogenetics |volume=8 |issue= 1 |pages= 39–44 |year= 2007 |pmid= 16969684 |doi= 10.1007/s10048-006-0062-0 |display-authors=etal}}
- {{cite journal |vauthors=Ishikawa T, Sato K, Shimazaki R |title=[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype]. |journal=Rinsho Shinkeigaku |volume=50 |issue= 1 |pages= 7–11 |year= 2010 |pmid= 20120347 |doi= 10.5692/clinicalneurol.50.7|display-authors=etal}}
{{refend}}{{NLM content}}{{Ion channels|g4}}{{gene-1-stub}} 2 : Integral membrane proteins|Connexins |