F8 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9666368
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII A20_M2143delinsMRIQDPGK
F8 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
25406352 The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics

Sauna, ZE, Lozier, JN, Kasper, CK, Yanover, C, Nichols, T, Howard, TE

Blood 2015
24037092 Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A

Pandey, GS, Yanover, C, Miller-Jenkins, LM, Garfield, S, Cole, SA, Curran, JE, Moses, EK, Rydz, N, Simhadri, V, Kimchi-Sarfaty, C, Lillicrap, D, Viel, KR, Przytycka, TM, Pierce, GF, Howard, TE, Sauna, ZE

Nat. Med. 2013
External Reference Information
External Reference
Gene Names
F8, F8C
Chain
signal peptide:1-19, chain:20-2351, chain:20-1332, chain:20-759, chain:760-1332, chain:1668-2351
Participates
Other forms of this molecule
Modified Residues
Name
Replacement of residues 20 to 2143 by MRIQDPGK
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
Guide to Pharmacology - Targets
OpenTargets
Mondo
ZINC - Substances
ZINC target
PRO
GlyGen
GeneCards
F8
Pharos - Targets
Orphanet
F8
ZINC - Predictions - Purchasable
ClinVar
HMDB Protein
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