TTR gene

GPTKB entity

Statements (64)
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 retina
liver
choroid plexus
gptkbp:firstDescribed 1958
gptkbp:fullName gptkb:transthyretin_gene
gptkbp:geneType protein-coding
gptkbp:HGNC_ID gptkb:HGNC:12405
https://www.w3.org/2000/01/rdf-schema#label TTR gene
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