F8, Official Symbol F8provided by HGNC Official Full Name coagulation factor VIIIprovided by HGNC Primary source HGNC:HGNC:3546 See related Ensembl:ENSG00000185010 MIM:300841; AllianceGenome:HGNC:3546 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AHF; F8B; F8C; HEMA; FVIII; THPH13; DXS1253E Summary This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 7.9), lung (RPKM 6.4) and 23 other tissues See more Orthologs mouse all