Reactome | amino acid metabolic disorder

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amino acid metabolic disorder Show undefined attributes

created	[InstanceEdit:5625030] Jassal, Bijay, 2014-10-01
databaseName	DOID
dbId	5625037
definition	An inherited metabolic disorders which impair the synthesis and degradation of amino acids.
displayName	amino acid metabolic disorder
identifier	9252
name	amino acid metabolic disorder
referenceDatabase	[ReferenceDatabase:1247631] DOID
schemaClass	Disease
synonym	inborn errors of amino acid metabolism
url	https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:9252

Referrals

(disease)

[FailedReaction:R-HSA-5659764] Defective SLC6A2 does not cotransport NAd, Na+ from extracellular region to cytosol
[Pathway:R-HSA-5660862] Defective amino acid transport by SLC7A7 causes lysinuric protein intolerance (LPI)
[FailedReaction:R-HSA-5660910] Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane
[Complex:R-HSA-9631849] SLC3A2:SLC7A7 mutants [plasma membrane]
[DefinedSet:R-HSA-5660894] SLC7A7 mutants [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660952] SLC7A7 Y457* [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660926] SLC7A7 L334R [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660850] SLC7A7 W242* [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660949] SLC7A7 T299Ifs*10 [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660933] SLC7A7 M50K [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660932] SLC7A7 T188I [plasma membrane]
[Pathway:R-HSA-5660686] Variant SLC6A20 affecting amino acid transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
[Pathway:R-HSA-5619101] Variant SLC6A20 affecting neurotransmitter transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
[FailedReaction:R-HSA-5660694] Variant SLC6A20 does not cotransport L-Pro, Na+ from extracellulare region to cytosol
[Pathway:R-HSA-5619041] Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
[FailedReaction:R-HSA-5653850] Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol
[DefinedSet:R-HSA-5653860] SLC36A2 mutants [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5653849] SLC36A2 V56* [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5653855] SLC36A2 G87V [plasma membrane]
[Pathway:R-HSA-5619067] Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
[FailedReaction:R-HSA-5625029] SLC1A1 does not cotransport L-Glu,L-Asp,D-Asp,H+,3Na+ from extracellular region to cytosol
[DefinedSet:R-HSA-5625024] SLC1A1 mutants [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5625023] SLC1A1 I395del [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5625045] SLC1A1 R445W [plasma membrane]
[Pathway:R-HSA-9865118] Diseases of branched-chain amino acid catabolism
[Pathway:R-HSA-9915355] Beta-ketothiolase deficiency
[Pathway:R-HSA-9912481] Branched-chain ketoacid dehydrogenase kinase deficiency

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