full name
transthyretin

synonyms
CTS, CTS1, HsT2651, PALB, TBPA, TTR, ENSG00000118271

HGNC
HGNC:12405

Entrez Gene
Gene:7276

ENSEMBL
ENSG00000118271

location
chr: 18
start: 29171730
stop: 29178987
strand: +

OMIM
OMIM:176300: TTR (Autosomal dominant inheritance)
OMIM:105210: Amyloidosis, hereditary, transthyretin-related
OMIM:115430: Carpal tunnel syndrome, familial
OMIM:145680: [Dystransthyretinemic hyperthyroxinemia]

transcripts
NM_000371.3

pathways
Amyloid fiber formation [NCBI:1269169] [REACTOME:R-HSA-977225] [PUBMED:16302959]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases associated with visual transduction [NCBI:1268929] [REACTOME:R-HSA-2474795] [PUBMED:16968212] [PUBMED:21377628] [PUBMED:20435355] [PUBMED:18632300]
Diseases of signal transduction [NCBI:1268855] [REACTOME:R-HSA-5663202] [PUBMED:12509752]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
FOXA2 and FOXA3 transcription factor networks [NCBI:137911] [Pathway Interaction Database:hnf3bpathway] [PUBMED:14500912] [PUBMED:9632808] [PUBMED:8668179] [PUBMED:2786140] [PUBMED:10748140] [PUBMED:8662915] [PUBMED:12865419] [PUBMED:12145169] [PUBMED:15314688] [PUBMED:12911579] [PUBMED:15123725] [PUBMED:16098831] [PUBMED:10455192] [PUBMED:15616563] [PUBMED:7524494] [PUBMED:7565696] [PUBMED:15959514] [PUBMED:11278466] [PUBMED:9369482] [PUBMED:8813720]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of fat-soluble vitamins [NCBI:1339147] [REACTOME:R-HSA-6806667] [PUBMED:22516726] [PUBMED:15951480] [PUBMED:16011460]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Non-integrin membrane-ECM interactions [NCBI:1270254] [REACTOME:R-HSA-3000171] [PUBMED:15039999] [PUBMED:20565253]
Retinoid cycle disease events [NCBI:1268930] [REACTOME:R-HSA-2453864] [PUBMED:18632300] [PUBMED:16968212] [PUBMED:21377628] [PUBMED:20435355]
Retinoid metabolism and transport [NCBI:1269624] [REACTOME:R-HSA-975634] [PUBMED:16011460] [PUBMED:11340090]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
The canonical retinoid cycle in rods (twilight vision) [NCBI:1269625] [REACTOME:R-HSA-2453902] [PUBMED:20188572] [PUBMED:16688755] [PUBMED:22074927] [PUBMED:21350678]
Thyroid hormone synthesis [NCBI:835410] [KEGG:hsa04918] [PUBMED:21448409] [PUBMED:9086577] [PUBMED:21986207] [PUBMED:11137035] [PUBMED:17666482] [PUBMED:20407074] [PUBMED:20093166] [PUBMED:20122987] [PUBMED:15611820] [PUBMED:20378719] [PUBMED:23438835] [PUBMED:11717564] [PUBMED:16870170] [PUBMED:19196800] [PUBMED:9538302] [PUBMED:11029276] [PUBMED:20167242] [PUBMED:10893432] [PUBMED:21683758]
Visual phototransduction [NCBI:1269623] [REACTOME:R-HSA-2187338] [PUBMED:15384919] [PUBMED:22074928] [PUBMED:20188572] [PUBMED:21111842] [PUBMED:16688755] [PUBMED:8382952] [PUBMED:22658984] [PUBMED:20430952] [PUBMED:21350678] [PUBMED:22074927] [PUBMED:16011460] [PUBMED:11340090]