humans and other animals, fungi, and cellular slime molds, is encoded by the MOCS1 gene. Both copies of this gene are defective in patients with molybdenum...
7 KB (806 words) - 17:12, 12 August 2023
and aldehyde oxidase.[citation needed] When caused by a mutation in the MOCS1 gene it is the type A variant. It can also be caused by a mutation in the...
6 KB (571 words) - 15:51, 30 October 2024
HGNC:17261 Q9Y3A3 9699 MOBP HGNC:7189 Q13875 9700 MOCOS HGNC:18234 Q96EN8 9701 MOCS1 HGNC:7190 Q9NZB8 9702 MOCS2 HGNC:7193 O96007 O96033 9703 MOCS3 HGNC:15765...
277 KB (17 words) - 18:41, 6 October 2024
JL (June 2003). "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH". Hum. Mutat. 21 (6): 569–76. doi:10.1002/humu.10223. PMID 12754701...
20 KB (2,486 words) - 06:40, 31 March 2024
cofactor deficiency, a genetic illness. MOCOS, molybdenum cofactor sulfurase MOCS1, MOCS2, MOCS3, GEPH "HPEUEJRPDGMIMY-UHFFFAOYSA-N". pubchem.ncbi.nlm.nih...
11 KB (1,044 words) - 16:03, 23 September 2024
JL (June 2003). "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH". Human Mutation. 21 (6): 569–76. doi:10.1002/humu.10223...
8 KB (978 words) - 05:21, 29 January 2023
syndrome; 304700; TIMM8A Molybdenum cofactor deficiency, type A; 252150; MOCS1 Molybdenum cofactor deficiency, type B; 252150; MOCS2 Molybdenum cofactor...
234 KB (18,877 words) - 06:16, 6 November 2024
precursor Z to MoCo by MPT synthase (known as group B MoCo deficiency). MOCS1 is defective for group A (the majority of patients), and encodes two enzymes...
11 KB (1,305 words) - 11:31, 2 November 2024
Johnson JL (2003). "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH". Hum. Mutat. 21 (6): 569–76. doi:10.1002/humu.10223. PMID 12754701...
6 KB (586 words) - 08:58, 3 December 2023