cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene. The membrane-associated protein encoded by this gene is a member of...
8 KB (954 words) - 22:19, 18 April 2024
of surfactant metabolism dysfunction is ABCA3, a transmembrane phospholipid transporter in lamellar body. ABCA3 has two ATP binding sites in the cytoplasmic...
20 KB (2,443 words) - 10:40, 8 November 2023
SFTPB) Surfactant protein C deficiency (mutations in SFTPC) ABCA3 deficiency (mutations in ABCA3) Brain–lung–thyroid syndrome (Mutations in TTF1) Congenital...
28 KB (2,840 words) - 18:55, 18 July 2024
Cataract-microcornea syndrome is thought to be caused by mutations in the ABCA3 gene. Cataract ABCA3 "Orphanet: Cataract microcornea syndrome". Orphanet. November...
5 KB (350 words) - 22:19, 18 April 2024
seven genes that map to six different chromosomes. These are ABCA1, ABCA2, ABCA3, and ABCA4, ABCA7, ABCA12, and ABCA13. The other subgroup consists of ABCA5...
111 KB (14,477 words) - 18:38, 28 June 2024
Genetics Home Reference. Retrieved 2019-10-24. Reference, Genetics Home. "ABCA3 gene". Genetics Home Reference. Retrieved 2019-10-24. Ashton, M. R.; Postle...
19 KB (2,207 words) - 21:10, 19 May 2024
ABAT HGNC:23 P80404 31 ABCA1 HGNC:29 O95477 32 ABCA2 HGNC:32 Q9BZC7 33 ABCA3 HGNC:33 Q99758 34 ABCA4 HGNC:34 P78363 35 ABCA5 HGNC:35 Q8WWZ7 36 ABCA6...
277 KB (17 words) - 23:17, 27 April 2024
beta-sheet of armI by a two-fold axis. ABCA1; ABCA10; ABCA12; ABCA13; ABCA2; ABCA3; ABCA4; ABCA5; ABCA6; ABCA7; ABCA8; ABCA9; ABCB1; ABCB10; ABCB11; ABCB4;...
8 KB (752 words) - 05:06, 14 March 2022
610913; SFTPC Surfactant metabolism dysfunction, pulmonary, 3; 610921; ABCA3 Sveinsson choreoretinal atrophy; 108985; TEAD1 Symphalangism, proximal;...
234 KB (18,877 words) - 15:43, 9 May 2024