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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
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gptkb:ADLD
gptkb:LMN1
gptkb:Lamin_A/C
|
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gptkbp:alternativeSplicing
|
produces lamin A and lamin C
|
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gptkbp:associatedWith
|
gptkb:dilated_cardiomyopathy
gptkb:familial_partial_lipodystrophy
gptkb:Emery-Dreifuss_muscular_dystrophy
gptkb:limb-girdle_muscular_dystrophy
gptkb:Hutchinson-Gilford_progeria_syndrome
|
|
gptkbp:discoveredBy
|
gptkb:Howard_J._Worman
|
|
gptkbp:encodes
|
gptkb:lamin_A
gptkb:lamin_C
|
|
gptkbp:Entrez_Gene_ID
|
4000
|
|
gptkbp:expressedIn
|
gptkb:nucleus
|
|
gptkbp:firstDescribed
|
1986
|
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gptkbp:function
|
regulation of gene expression
nuclear stability
structural component of nuclear lamina
|
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gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
6636
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LMNA
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q22
|
|
gptkbp:mutationAssociatedWith
|
causes nuclear envelope defects
|
|
gptkbp:OMIM
|
150330
|
|
gptkbp:orthologInMouse
|
gptkb:Lmna
|
|
gptkbp:proteinFamily
|
intermediate filament proteins
|
|
gptkbp:UniProtID
|
gptkb:P02545
|
|
gptkbp:bfsParent
|
gptkb:Familial_atrial_fibrillation
gptkb:familial_partial_lipodystrophy
gptkb:CMT4
gptkb:chromosome_1q22
|
|
gptkbp:bfsLayer
|
7
|