FIBB_HUMAN
Source:
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
FGB
Protein names and data:
FIBB_HUMAN
, Fibrinogen beta chain; Fibrinopeptide B; Fibrinogen beta chain; Flags: Precursor
Lenght: 491 a.a.
Mass: 55928 Da
fasta formatted sequence
Function:
Fibrinogen has a double function: yielding monomers that polymerize into fibrin and acting as a cofactor in platelet aggregation.
Disease:
( OMIM:
134830
202400
)
Congenital afibrinogenemia (CAFBN) [MIM:202400]: Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. Note=The disease is caused by mutations affecting the gene represented in this entry. Patients with congenital fibrinogen abnormalities can manifest different clinical pictures. Some cases are clinically silent, some show a tendency toward bleeding and some show a predisposition for thrombosis with or without bleeding.
Cellular location:
Secreted.
Genetic variants
2 - 2
K -> E (in dbSNP:rs6053). VAR_014169
6053
39 - 102
Missing (in New York-1). VAR_002402
44 - 44
R -> C (in Christchurch-2, Seattle-1 and Ijmuiden). VAR_002403
45 - 45
G -> R (in Ise). VAR_002404
74 - 74
R -> C (in Nijmegen). VAR_002405
98 - 98
A -> T (in Naples and Milano-2; associated with defective thrombin binding and thrombophilia). VAR_002406
100 - 100
P -> S (in dbSNP:rs2227434). VAR_013091
2227434
170 - 170
N -> H (in dbSNP:rs2227409). VAR_013092
2227409
196 - 196
R -> C (in congenital afibrinogenemia; variant Longmont). VAR_016908
265 - 265
P -> L (in dbSNP:rs6054). VAR_013093
6054
365 - 365
A -> T (in Pontoise-2). VAR_002407
383 - 383
L -> R (in congenital afibrinogenemia; abolishes fibrinogen secretion). VAR_016909
430 - 430
G -> D (in congenital afibrinogenemia; abolishes fibrinogen secretion). VAR_016910
478 - 478
R -> K (in Baltimore-2; dbSNP:rs4220). VAR_002408
4220
Database cross-references
UniProt:
P02675
Ensembl:
ENST00000302068
MIM:
134830
MIM:
202400
neXtProt:
NX_P02675
Antibodypedia:
P02675
(may not find the protein thus also not any antibody)
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