sub-family C member 6 (ABCC6) and multi-specific organic anion transporter E (MOAT-E) is a protein that in humans is encoded by the ABCC6 gene. The protein...
7 KB (919 words) - 04:29, 25 January 2024
atherosclerosis. PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1). Usually, pseudoxanthoma...
36 KB (3,435 words) - 10:44, 25 September 2024
mutations in the ABCC6 genes in 10% of patients. However, sometimes individuals affected with GACI do not have mutations in the ENPP1 or ABCC6 gene and in...
33 KB (3,328 words) - 16:18, 10 October 2024
Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6". The American Journal of Human Genetics. 90 (1): 25–39. doi:10.1016/j.ajhg...
6 KB (571 words) - 07:10, 18 April 2023
Includes the CFTR protein, which causes cystic fibrosis when deficient. ABCC6 ABCD Consists of 4 half transporters Are all used in peroxisomes. ABCD1...
111 KB (14,477 words) - 12:52, 26 August 2024
deletion syndrome 18q D Pseudo-Gaucher disease Pseudoxanthoma elasticum ABCC6 recessive 1:25,000 Retinitis pigmentosa RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31...
42 KB (983 words) - 18:14, 6 October 2024
ABCC3 HGNC:54 O15438 55 ABCC4 HGNC:55 O15439 56 ABCC5 HGNC:56 O15440 57 ABCC6 HGNC:57 O95255 58 ABCC8 HGNC:59 Q09428 59 ABCC9 HGNC:60 O60706 60 ABCC10...
277 KB (17 words) - 18:34, 6 October 2024
-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6 −/− mouse model of pseudoxanthoma elasticum". Experimental Dermatology....
3 KB (136 words) - 14:30, 4 May 2024
Aloe G, et al. (2001). "Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11". Hum. Mutat. 18...
10 KB (1,334 words) - 08:39, 29 January 2023
genetic mutations in the cardiovascular related genes VKORC1, NT5E, and ABCC6 have a potential role in the development of the disease. "Mönckeberg arteriosclerosis"...
33 KB (3,733 words) - 19:04, 6 September 2024
condition(s) ABCA12 Harlequin ichthyosis Lamellar ichthyosis ABCB1 P glycoprotein ABCC6 Pseudoxanthoma elasticum ABCC7 CFTR protein Cystic fibrosis ACVR1 Fibrodysplasia...
12 KB (108 words) - 02:46, 17 September 2022
ABCB9; ABCC1; ABCC10; ABCC11; ABCC12; ABCC13; ABCC2; ABCC3; ABCC4; ABCC5; ABCC6; ABCC8; ABCC9; CFTR; TAP1; TAP2; TAPL; Kerr ID (2002). "Structure and association...
4 KB (429 words) - 04:12, 7 November 2023
the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated...
5 KB (612 words) - 17:41, 28 October 2022
ABCB8; ABCB9; ABCC1; ABCC10; ABCC11; ABCC12; ABCC2; ABCC3; ABCC4; ABCC5; ABCC6; ABCC8; ABCC9; ABCD1; ABCD2; ABCD3; ABCD4; ABCE1; ABCF1; ABCF2; ABCF3; ABCG1;...
8 KB (752 words) - 05:06, 14 March 2022
Pseudoxanthoma elasticum, an inborn error of calcification due to absence of MRP6 (ABCC6) in the liver, is caused by low plasma pyrophosphate (PPi). MRP6 mediates...
25 KB (3,526 words) - 08:52, 13 September 2024
264600; SRD5A2 Pseudoxanthoma elasticum; 264800; ABCC6 Pseudoxanthoma elasticum, forme fruste; 177850; ABCC6 Pseudoxanthoma elasticum-like disorder with multiple...
234 KB (18,877 words) - 15:43, 9 May 2024