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Details on Person LMBRD1 L352fs*19 [lysosomal membrane]

Class:Id	EntityWithAccessionedSequence:3315419
_displayName	LMBRD1 L352fs*19 [lysosomal membrane]
_timestamp	2013-09-05 12:43:57
compartment	[Compartment:17938] lysosomal membrane
created	[InstanceEdit:3315407] Jassal, B, 2013-04-25
disease	[Disease:3359452] methylmalonic aciduria and homocystinuria type cblF
endCoordinate	369
hasModifiedResidue	[FragmentReplacedModification:3769421] Replacement of residues 352 to 369 by LICFCLYYKQFSLIIFL
modified	[InstanceEdit:3662298] Jassal, B, 2013-06-07 [InstanceEdit:3769426] Jassal, B, 2013-06-20 [InstanceEdit:3769454] Jassal, B, 2013-06-21
name	LMBRD1 L352fs*19 Probable lysosomal cobalamin transporter LMBD1_HUMAN LMBRD1
referenceEntity	[ReferenceGeneProduct:235239] UniProt:Q9NUN5 LMBRD1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:4546257] R-HSA-3315419.1
startCoordinate	1
(diseaseEntity)	[EntityFunctionalStatus:3315423] loss_of_function of LMBRD1 L352fs*19 [lysosomal membrane]
(physicalEntity)	[CatalystActivity:9631925] ABC-type vitamin B12 transporter activity of LMBRD1 L352fs*19 [lysosomal membrane]
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No pathways have been reviewed or authored by LMBRD1 L352fs*19 [lysosomal membrane] (3315419)