Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene. Defects in this gene lead...
10 KB (1,086 words) - 00:26, 10 March 2024
interphalangeal joints. It was characterized in 1967. It can be associated with GJB2. Camisa disease Bart syndrome Palmoplantar keratoderma Rapini, Ronald P.;...
2 KB (152 words) - 05:04, 5 May 2024
amino acids of the plasma membrane. Meguid described a new mutation for the GJB2 gene ( a gene responsible for recessive non-syndromic deafness) with a deletion...
12 KB (1,230 words) - 01:10, 4 October 2022
sensorineural hearing loss is often associated. It has been associated with GJB2. It was characterized in 1929. Olmsted syndrome (also known as "Mutilating...
20 KB (2,030 words) - 12:28, 29 May 2024
include: Vohwinkel syndrome may be caused by mutations in either loricrin or GJB2. This is an example of locus heterogeneity. List of keratins expressed in...
3 KB (161 words) - 16:22, 28 March 2023
junction intercellular channel is formed by the conjunction of 2 connexons. See GJB2 for additional background information on connexins. GRCh38: Ensembl release...
4 KB (551 words) - 00:32, 20 October 2023
This condition is caused by autosomal dominant missense mutations of the GJB2 gene, located in the long arm of chromosome 13. According to OMIM, 4 families...
8 KB (594 words) - 00:13, 14 October 2022
Keratitis-ichthyosis-deafness syndrome 602450 148210 Autosomal dominant GJB2 Neutral lipid storage disease with ichthyosis 275630 Autosomal recessive...
14 KB (964 words) - 10:28, 15 July 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
57 KB (6,740 words) - 10:16, 27 March 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
10 KB (759 words) - 03:31, 3 June 2024