FIBA_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
FGA
Protein names and data:
FIBA_HUMAN
, Fibrinogen alpha chain; Fibrinopeptide A; Fibrinogen alpha chain; Flags: Precursor
Lenght: 866 a.a.
Mass: 94973 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:
105200
134820
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. The majority of cases of afibrinogenemia are due to truncating mutations. Variations in position Arg-35 (the site of cleavage of fibrinopeptide a by thrombin) leads to alpha-dysfibrinogenemias. Amyloidosis 8 (AMYL8) [MIM:105200]: A hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted.
Tissue specificity:
Plasma.
Genetic variants
6 - 6
I -> V (in dbSNP:rs2070025). VAR_011609
2070025
26 - 26
D -> N (in Lille-1). VAR_002390
31 - 31
G -> V (in Rouen-1). VAR_002391
35 - 35
R -> C. VAR_002392
35 - 35
R -> H. VAR_002393
37 - 37
P -> L (in Kyoto-2). VAR_002394
38 - 38
R -> G (in Aarhus-1). VAR_002397
38 - 38
R -> N (in Munich-1; requires 2 nucleotide substitutions). VAR_002395
38 - 38
R -> S (in Detroit-1). VAR_002396
39 - 39
V -> D (in Canterbury). VAR_010730
66 - 66
S -> T. VAR_002398
160 - 160
R -> S (in Lima). VAR_002399
331 - 331
T -> A (in dbSNP:rs6050). VAR_011610
6050
446 - 446
K -> E (in dbSNP:rs6052). VAR_014168
6052
453 - 453
S -> N (in Caracas-2). VAR_002400
456 - 456
T -> A (in dbSNP:rs2070031). VAR_011611
2070031
545 - 545
E -> V (in AMYL8). VAR_010731
573 - 573
R -> C (in Dusart/Paris-5). VAR_002401
573 - 573
R -> L (in AMYL8). VAR_010732
Database cross-references
UniProt:
P02671
Ensembl:
ENST00000302053
Ensembl:
ENST00000403106
MIM:
105200
MIM:
134820
MIM:
202400
neXtProt:
NX_P02671
Antibodypedia:
P02671
(may not find the protein thus also not any antibody)
Local full text data:
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