Gene: [04q35/F11] coagulation factor XI (plasma thromboplastin antecedent); hypothromboplastinemia (Rosenthal syndrome, coagulation factor XI deficiency);


HIS

Preliminary data (Futterweit-1986) about the localization of F11 in chromosome 15q (on the basis of one case of plasma thromboplastin deficiency in a patient with Prader-Willi chromosomal syndrome; see GEM:15q1/PWCR) were not confirmed."

GEN

The gene length is 23 kb. Exons: 15; introns: 14.

REF

PAT,PHE,FOG "Aghai &: Scand J Haematol, 32, 327-331, 1984
PRO,GEN,MOP "Asakai R &: Biochemistry, 26, 7221-7228, 1987
PAT,PHE,FOG "Bertina, Veltkamp: Brit J Haematol, 42, 623-635, 1979
PAT,PHE,FOG "Braunstein &: J Clin Invest, 68, 1420-1426, 1981
PEP,SEQ,MOP "Fujikawa K &: Biochemistry, 25, 2417-2424, 1986
HIS,PAT "Futterweit &: JAMA, 255, 3280-3282, 1986
LOC "Kato A &: CCG, 52, 77-78, 1989
PAT,PHE,FOG "Litz &: Am J Hematol, 28, 8-12, 1988
PAT,PHE,FOG "Mannhalter &: Blood, 70, 31-37, 1987
PAT,PHE,FOG "Ragni &: Blood, 65, 719-724, 1985
PAT,PHE,FOG "Rapaport &: Blood, 18, 149-165, 1961
PAT,PHE,FOG "Rimon &: Blood, 48, 165-174, 1976
HIS,PAT,PHE,FOG "Rosenthal &: Blood, 10, 120-131, 1955
HIS,PAT,PHE,FOG "Rosenthal &: Proc Soc Exp Biol Med, 82, 171-174, 1953

SWI

SWISSPROT: P03951

KEY

hem, clot

CLA

coding, basic

LOC

04 q35

MIM

MIM: 264900

EZN

ENZYME: 3.4.21.27

Смотрите также:

  • Gene: [04q35/KLK3] kallikrein 3, plasma (Fletcher factor); Fletcher factor deficiency (plasma kallikrein deficiency);