• Thumbnail for ABCG5
    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
  • 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
  • Thumbnail for Chromosome 2
    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 (2,528 words) - 18:32, 2 June 2024
  • Thumbnail for ABCG8
    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
  • Thumbnail for Stanol ester
    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
  • Thumbnail for Sitosterolemia
    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) - 03:58, 27 December 2023
  • 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
  • Thumbnail for Familial hypercholesterolemia
    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
  • Thumbnail for Hereditary stomatocytosis
    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
  • Thumbnail for Phytosterol
    coronary atherosclerosis. Phytosterolaemia has been linked to mutations in the ABCG5/G8 proteins which pump plant sterols out of enterocytes and hepatocytes...
    34 KB (3,704 words) - 01:51, 11 December 2023