TTR gene

URI: https://gptkb.org/entity/TTR_gene

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alias	gptkb:AMYL1 gptkb:TBPA gptkb:prealbumin ATTR
gptkbp:alternativeSplicing	yes
gptkbp:associatedWith	gptkb:familial_amyloid_cardiomyopathy gptkb:familial_amyloid_polyneuropathy gptkb:senile_systemic_amyloidosis
gptkbp:biologicalProcess	transports retinol-binding protein transports thyroxine
gptkbp:discoveredBy	gptkb:Benson_et_al.
gptkbp:encodes	gptkb:transthyretin_protein
gptkbp:Entrez_Gene_ID	7276
gptkbp:expressedIn	gptkb:choroid_plexus retina liver
gptkbp:firstDescribed	1958
gptkbp:fullName	gptkb:transthyretin_gene
gptkbp:geneType	protein-coding
gptkbp:HGNC_ID	gptkb:HGNC:12405
gptkbp:involvedIn	amyloid fibril formation
gptkbp:length	4 exons
gptkbp:locatedOnChromosome	gptkb:chromosome_18 gptkb:18q12.1
gptkbp:mutationAssociatedWith	gptkb:Val30Met nonsense missense Ala25Thr Asp18Gly Glu54Gly Gly26Ser Gly47Ala Gly47Arg Gly47Asn Gly47Asp Gly47Cys Gly47Gln Gly47Glu Gly47Gly Gly47His Gly47Leu Gly47Lys Gly47Phe Gly47Pro Gly47Ser Gly47Trp Gly47Tyr Gly47Val Gly53Glu Gly57Arg Gly6Ser Gly83Arg Ile68Leu Leu58His Ser77Tyr Thr60Ala Val122Ile
gptkbp:OMIM	176300
gptkbp:orthologInMouse	gptkb:Ttr
gptkbp:UniProtID	gptkb:P02766
gptkbp:bfsParent	gptkb:NTLA-5001
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	TTR gene