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Details on Person Jassal, Bijay, 2013-07-23

Class:Id	InstanceEdit:3928680
_displayName	Jassal, Bijay, 2013-07-23
_timestamp	2014-07-19 00:44:38
author	[Person:73447] Jassal, Bijay
dateTime	2013-07-23 17:19:46
modified	[InstanceEdit:5358717] Jassal, Bijay, 2014-04-03 [InstanceEdit:5609986] Wu, G, 2014-07-19
(created)	[Person:3928681] Homolova, Katerina [Person:3928682] Andresen, Brage S [LiteratureReference:3928683] The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria [Person:3928684] Doktor, Thomas Koed
(modified)	[Reaction:174374] MTR transfers CH3 from MeCbl to HCYS [Homo sapiens] [Pathway:196741] Cobalamin (Cbl, vitamin B12) transport and metabolism [Homo sapiens] [Complex:197192] NADSYN1 hexamer [cytosol] [Homo sapiens] [CatalystActivity:197281] NAD+ synthase (glutamine-hydrolyzing) activity of NADSYN1 hexamer [cytosol] [PathwayDiagram:532187] Diagram of Metabolism of water-soluble vitamins and cofactors, Defective AMN causes MGA1, Defective CD320 causes MMATC, Defective CUBN causes MGA1, Defective CBLIF causes IFD, Defective MMAA causes MMA, cblA type, Defective MMAB causes MMA, cblB type, Defective MMACHC causes MAHCC, Defective MMADHC causes MMAHCD, Defective MTR causes HMAG, Defective MTRR causes HMAE, Defective TCN2 causes TCN2 deficiency, Defective HLCS causes multiple carboxylase deficiency, Defective BTD causes biotidinase deficiency, and Defective ABCD4 causes MAHCJ [Summation:3095880] MMACHC (Methylmalonic aciduria and homocystinuria type C pro... [Complex:3095903] MMACHC:cob(II)alamin [cytosol] [Homo sapiens] [SimpleEntity:3149479] cob(II)alamin [cytosol] [Summation:3149485] Methionine synthase reductase (MTRR), in a stable complex wi... [Summation:3149490] MMACHC (Methylmalonic aciduria and homocystinuria type C pro... List all 33 refering instances
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No pathways have been reviewed or authored by Jassal, Bijay, 2013-07-23 (3928680)