cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene. The protein encoded by this gene is a member of the superfamily of...
9 KB (1,144 words) - 22:05, 18 August 2023
Sterolin (redirect from ABCG5 and ABCG8 Genes)
ABCG5 and ABCG8 genes encode for two proteins sterolin-1 and -2, respectively. Sterolin-1 and –2 are two ‘half’ adenosine triphosphate binding (ATP) cassette...
7 KB (936 words) - 05:06, 14 March 2022
arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis...
9 KB (1,153 words) - 00:43, 27 February 2024
family member 3 AFTPH: encoding protein Aftiphilin ALMS1: Alstrom syndrome 1 ABCG5 and ABCG8: ATP-binding cassette, subfamily A, members 5 and 8 ASXL2: Additional...
40 KB (2,534 words) - 05:56, 28 July 2024
independent risk factor for coronary heart disease (CHD). Two ABC transporters (ABCG5 and ABCG8) play an important role in the regulating the intestinal absorption...
16 KB (1,875 words) - 11:21, 13 December 2023
from mutations in either of two adjacent and oppositely oriented genes (ABCG5 and ABCG8) located in chromosome 2 in band 2p21 and encode for ABC transporter...
9 KB (988 words) - 03:28, 29 July 2024
with FH and also features cholesterol accumulation in tissues, is due to ABCG5 and ABCG8 mutations. The LDL receptor gene is located on the short arm of...
48 KB (5,456 words) - 18:52, 29 May 2024
ABCG1 HGNC:73 P45844 72 ABCG2 HGNC:74 Q9UNQ0 73 ABCG4 HGNC:13884 Q9H172 74 ABCG5 HGNC:13886 Q9H222 75 ABCG8 HGNC:13887 Q9H221 76 ABHD1 HGNC:17553 Q96SE0...
277 KB (17 words) - 23:17, 27 April 2024
stomatocytosis, a disorder of lipid metabolism associated with mutations in ABCG5 and/or ABCG8, which encode sterol transporters. The resulting abnormal sterol...
12 KB (1,229 words) - 22:12, 20 March 2024
coronary atherosclerosis. Phytosterolaemia has been linked to mutations in the ABCG5/G8 proteins which pump plant sterols out of enterocytes and hepatocytes...
33 KB (3,590 words) - 16:39, 29 June 2024
genome-wide association scan identifies the hepatic cholesterol transporter ABCG5/ABCG8 as a susceptibility factor for human gallstone disease. Nat Genetics...
24 KB (3,432 words) - 13:57, 21 January 2024
of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus". Hepatology. 57 (6): 2407–2417. doi:10.1002/hep.26009...
20 KB (1,627 words) - 18:20, 3 February 2024
ABCD1; ABCD2; ABCD3; ABCD4; ABCE1; ABCF1; ABCF2; ABCF3; ABCG1; ABCG2; ABCG4; ABCG5; ABCG8; CFTR; TAP1; TAP2; TAPL; Hung LW, Wang IX, Nikaido K, Liu PQ, Ames...
8 KB (752 words) - 05:06, 14 March 2022
ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8". J. Hum. Genet. 47 (6): 285–310. doi:10.1007/s100380200041....
4 KB (507 words) - 12:55, 24 January 2024
ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8". J. Hum. Genet. 47 (6): 285–310. doi:10.1007/s100380200041....
5 KB (644 words) - 03:59, 29 January 2023
Simpson-Golabi-Behmel syndrome, type 2; 300209; OFD1 Sitosterolemia; 210250; ABCG5 Sitosterolemia; 210250; ABCG8 Sjögren–Larsson syndrome; 270200; ALDH3A2...
234 KB (18,877 words) - 15:43, 9 May 2024
ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8". Journal of Human Genetics. 47 (6): 285–310. doi:10.1007/s100380200041...
32 KB (2,880 words) - 01:43, 11 December 2023