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Details on Person Defective CMAHP does not hydroxylate CMP-Neu5Ac to CMP-Neu5Gc

Class:Id	FailedReaction:4084992
_displayName	Defective CMAHP does not hydroxylate CMP-Neu5Ac to CMP-Neu5Gc
_timestamp	2016-07-15 23:49:55
authored	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
edited	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
entityFunctionalStatus	[EntityFunctionalStatus:4093229] loss_of_function of CMAHP [cytosol]
inferredFrom	[Reaction:4084981] Cmah hydroxylates CMP-Neu5Ac to CMP-Neu5Gc [Pan troglodytes]
input	[SimpleEntity:4085435] CMP-Neu5Ac [cytosol] [SimpleEntity:4085415] Fe(2+)Cb5 [cytosol] [SimpleEntity:4085415] Fe(2+)Cb5 [cytosol] [SimpleEntity:70106] H+ [cytosol] [SimpleEntity:70106] H+ [cytosol] [SimpleEntity:29368] O2 [cytosol]
isChimeric	FALSE
literatureReference	[LiteratureReference:4093217] Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution [LiteratureReference:4085437] A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence [LiteratureReference:4093223] The molecular basis for the absence of N-glycolylneuraminic acid in humans
modified	[InstanceEdit:4085429] Jassal, Bijay, 2013-08-05 [InstanceEdit:4093230] Jassal, B, 2013-08-14 [InstanceEdit:4612646] Jassal, Bijay, 2013-09-26 [InstanceEdit:4687780] Jassal, B, 2013-10-17 [InstanceEdit:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:8879177] Wu, G, 2016-07-15
name	Defective CMAHP does not hydroxylate CMP-Neu5Ac to CMP-Neu5Gc
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:8907448] R-HSA-4084992.1
summation	[Summation:4093228] The sialic acid N-glycolylneuraminic acid (Neu5Gc), the hydr...
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No pathways have been reviewed or authored by Defective CMAHP does not hydroxylate CMP-Neu5Ac to CMP-Neu5Gc (4084992)