protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the GJA1 gene on chromosome 6. As a connexin, GJA1 is a component...
18 KB (1,930 words) - 02:05, 18 June 2024
most likely due to a de novo mutation, and it may be associated with the GJA1 gene. Diagnosis is based on the physical characteristics and symptoms. There...
7 KB (627 words) - 15:58, 9 April 2024
recessive trait. It is generally believed to be caused by a mutation in the gene GJA1, which codes for the gap junction protein connexin 43. Slightly different...
7 KB (642 words) - 01:43, 15 June 2023
DPYD ERCC1 ERCC5 FADD FAM111A FNBP4 FOXL2 FRAS1 FREM1 FREM2 FZD5 GDF3 GDF6 GJA1 GRIP1 HCCS HMGB3 HMX1 IGBP1 KAT6B KMT2D LRP2 MAB21L2 MAF MFRP NAA10 NDUFB11...
25 KB (2,173 words) - 09:44, 18 March 2024
is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. The condition is characterized abnormal facial features, impairment...
4 KB (289 words) - 14:38, 30 June 2023
Zhang, Shuyi (2009). "Molecular cloning and evolutionary analysis of the GJA1 (connexin43) gene from bats (Chiroptera)". Genetics Research. 91 (2): 101–109...
169 KB (18,242 words) - 00:14, 28 July 2024
1 2 3 General bacterial porin family Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1...
44 KB (5,175 words) - 14:37, 14 August 2024
and wavelength. The abnormal distribution of gap junction proteins such as GJA1 (also known as Connexin 43), and GJA5 (Connexin 40) causes non-uniformity...
164 KB (18,159 words) - 09:23, 6 August 2024
left ventricular cardiomyopathy. Genetic loci associated with HLHS include GJA1 (connexin 43), HAND1, NKX2.5, 10q22, and 6q23. There is a slight risk of...
42 KB (5,186 words) - 17:18, 28 March 2024
1 2 3 General bacterial porin family Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1...
51 KB (5,597 words) - 08:29, 23 July 2024