F8 V2144_Y2351delinsHGVLENGKNWEPSYRW [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9666353
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII V2144_Y2351delinsHGVLENGKNWEPSYRW
F8 V2144_Y2351delinsHGVLENGKNWEPSYRW [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, Yanover, C, Lozier, JN, Nichols, T, Howard, TE, Kasper, CK

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

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

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 2144 to 2351 by HGVLENGKNWEPSYRW
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
ClinVar
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