Property Summary

NCBI Gene PubMed Count 54
Grant Count 250
R01 Count 188
Funding $51,260,482.8
PubMed Score 625.60
PubTator Score 171.59

Knowledge Summary

Patent

No data available

Synonym

Accession P48165 A7L5M5 Q5VVN9 Q9NP25
Symbols CAE
CAE1
CX50
CZP1
MP70
CTRCT1

Gene

PANTHER Protein Class (2)

Gene RIF (45)

PMID Text
26174669 These results indicated that the mutant Cx50 (S276F) might inhibit the function of gap junction channel in a dominant negative manner, but inhibit the hemichannel function in a recessive negative manner.
25947639 This is a novel missense mutation [c.829C > T, (p.H277Y)] identified in exon 2 of Cx50.
25549162 This study identified three mutations in three Chinese families with hereditary cataracts. Of the three mutations, two were novel (c.125 A > C in GJA3 and c.268 C > T in GJA3), one was previously reported (c.218 C > T in GJA8).
25517998 GJA8 mutation (p.V44A) is associated with autosomal dominant congenital cataract.
25403472 We have used trio-based exome sequencing to uncover a recurrent missense mutation in CRYGD and two novel missense mutations in GJA8 associated with autosomal dominant cataract in three nuclear families.
25301372 A recurrent missense mutation c.773C>T (p.S258F) in exon 2 of the gap junction protein alpha 8 gene (GJA8) was identified in the proband with nuclear cataract.
25003127 structural bases of the varied functional consequences of Cx50 missense mutations, were determined.
24535056 Tthe molecular consequences of the p.P88T mutation in GJA8 include changes in connexin 50 protein localization patterns.
24281366 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
24005045 The results provide a molecular basis for the formation of various cataract phenotypes in human patients with Cx50 mutations.
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AA Sequence

MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYDEAF      1 - 70
PISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKK     71 - 140
FRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDCFVSRPTEKTIFILFML    141 - 210
SVASVSLFLNVMELGHLGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFP    211 - 280
LTEVGMVETSPLPAKPFNQFEEKISTGPLGDLSRGYQETLPSYAQVGAQEVEGEGPPAEEGAEPEVGEKK    281 - 350
EEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLS    351 - 420
KASSRARSDDLTV                                                             421 - 433
//

Text Mined References (59)

PMID Year Title
26174669 2015 Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract.
25947639 2015 A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.
25549162 2015 Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.
25517998 2014 A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.
25403472 2014 Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
25301372 2014 Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract.
25003127 2014 Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24535056 2014 Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.
24281366 2014 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
More...