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gptkbp:instanceOf
|
gptkb:gene
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|
gptkbp:alternativeName
|
gptkb:EC_3.2.1.76
gptkb:IDUA_HUMAN
gptkb:IDUR
gptkb:MPS1
gptkb:MPSI
gptkb:alpha-L-iduronidase_gene
|
|
gptkbp:associatedWith
|
gptkb:Mucopolysaccharidosis_type_I
|
|
gptkbp:cellularComponent
|
gptkb:lysosome
|
|
gptkbp:clinicalTrialPhase
|
sequencing
enzyme assay
|
|
gptkbp:discoveredBy
|
mutation analysis in MPS I patients
|
|
gptkbp:encodes
|
gptkb:alpha-L-iduronidase
|
|
gptkbp:Entrez_Gene_ID
|
3425
|
|
gptkbp:enzyme
|
hydrolysis of terminal alpha-L-iduronic acid residues
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1981
|
|
gptkbp:fullName
|
gptkb:iduronidase_alpha-L_gene
|
|
gptkbp:function
|
lysosomal degradation of glycosaminoglycans
|
|
gptkbp:gene
|
gptkb:IDUA
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
gptkb:GO:0003847
gptkb:GO:0004568
gptkb:GO:0005764
gptkb:GO:0006027
|
|
gptkbp:HGNC_ID
|
5391
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IDUA gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:involvedIn
|
glycosaminoglycan catabolic process
lysosomal storage pathway
|
|
gptkbp:length
|
653 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
gptkb:4p16.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ClinVar
gptkb:HGMD
gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome
gptkb:Scheie_syndrome
gptkb:LOVD
|
|
gptkbp:numberOfExons
|
14
|
|
gptkbp:OMIM
|
252800
|
|
gptkbp:orthologInMouse
|
gptkb:Idua
|
|
gptkbp:orthologInZebrafish
|
idua
|
|
gptkbp:pathway
|
degradation of dermatan sulfate
degradation of heparan sulfate
|
|
gptkbp:product
|
gptkb:alpha-L-iduronidase
|
|
gptkbp:proteinFamily
|
gptkb:glycosidase_family_39
|
|
gptkbp:referenceGenome
|
gptkb:NM_000203
|
|
gptkbp:referenceSequenceProtein
|
gptkb:NP_000194
|
|
gptkbp:UniProtID
|
P35475
|
|
gptkbp:bfsParent
|
gptkb:mucopolysaccharidosis_type_I_(MPS_I)
|
|
gptkbp:bfsLayer
|
5
|