FIBG_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
FGG
, PRO2061
Protein names and data:
FIBG_HUMAN
, Fibrinogen gamma chain; Flags: Precursor
Lenght: 453 a.a.
Mass: 51512 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:
134850
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
77 - 77
E -> G (in dbSNP:rs11551835). VAR_049066
11551835
140 - 140
Y -> H (in dbSNP:rs2066870). VAR_033930
2066870
191 - 191
G -> R (in Milano-12; dbSNP:rs6063). VAR_014170
6063
301 - 301
R -> C (in Tochigi/Osaka-2/Milano-5/ Villajoyosa). VAR_002409
301 - 301
R -> H (in Bergamo-2/Essen/Haifa/Osaka-3/ Perugia/Saga/Barcelona-3/Barcelona-4). VAR_002410
318 - 318
G -> V (in Baltimore-1; impaired polymerization). VAR_002411
334 - 334
N -> I (in Baltimore-3; impaired polymerization; dbSNP:rs121913090). VAR_002413
121913090
334 - 334
N -> K (in Kyoto-1; causes accelerated cleavage by plasmin). VAR_002412
335 - 335
G -> D (in Hillsborough; prolonged thrombin clotting time). VAR_015853
336 - 336
M -> T (in Asahi; impaired polymerization). VAR_002414
345 - 346
Missing (in Vlissingen; defective calcium binding and impaired polymerization). VAR_002415
355 - 355
Q -> R (in Nagoya-1; impaired polymerization). VAR_002416
356 - 356
D -> V (in Milano-1; impaired polymerization). VAR_002418
356 - 356
D -> Y (in Kyoto-3; impaired polymerization). VAR_002417
363 - 363
N -> K (in Bern-1; impaired polymerization). VAR_002419
377 - 377
G -> VMCGEALPMLKDPCYS (in Paris-1; impaired polymerization). VAR_002420
384 - 384
S -> C (in Milano-7; impaired polymerization). VAR_002421
401 - 401
R -> G (in Osaka-5). VAR_002422
410 - 410
M -> V (in dbSNP:rs6061). VAR_014171
6061
Database cross-references
UniProt:
P02679
Ensembl:
ENST00000336098
Ensembl:
ENST00000404648
MIM:
134850
MIM:
202400
neXtProt:
NX_P02679
Antibodypedia:
P02679
(may not find the protein thus also not any antibody)
Local full text data:
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