Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-A, mRNA.
| RefSeq Version | NM_000509.4, 70906436 |
| Length | 1665 bp |
| Structure | linear |
| Update Date | 27-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-A, mRNA. |
| Product | fibrinogen gamma chain isoform gamma-A precursor |
| Comment | Summary: The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq]. Transcript Variant: This variant (gamma-A) is the predominant transcript and is shorter than variant gamma-B. Variant gamma-A encodes isoform gamma-A, which is shorter and has a distinct C-terminus compared to isoform gamma-B. |
| RefSeq | NP_000500.2 |
| CDS | 142..1455 | Exon (1) | 1..219 | Exon (2) | 1..219 | Exon (3) | 220..264 | Exon (4) | 265..448 | Exon (5) | 449..542 | Exon (6) | 543..673 | Exon (7) | 674..807 | Exon (8) | 808..992 | Exon (9) | 993..1270 | Exon (10) | 1271..1440 | Exon (11) | 1441..1661 |
| Translation | MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQT
KVDKDLQSLEDILHQVENKTSEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIM
KYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQCQEPCKDTVQIHDITGKDCQ
DIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG
FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKY
RLTYAYFAGGDAGDAFDGFDFGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGW
WMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKTRWYSMKKTTMKIIPFNRLTI
GEGQQHHLGGAKQAGDV
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| Position | Chain | Variation | Link |
| 128 | + | a, g | dbSNP:11551851 |
| 156 | + | a, g | dbSNP:11551843 |
| 176 | + | c, t | dbSNP:11551852 |
| 183 | + | a, c | dbSNP:11551842 |
| 186 | + | c, t | dbSNP:11551841 |
| 204 | + | c, t | dbSNP:11551848 |
| complement(215) | - | g, a | dbSNP:62637584 |
| 216 | + | a, g | dbSNP:11551839 |
| 258 | + | a, g | dbSNP:11551844 |
| 297 | + | a, g | dbSNP:11551836 |
| 301 | + | c, t | dbSNP:11551840 |
| 371 | + | a, g | dbSNP:11551835 |
| 402 | + | a, g | dbSNP:11551850 |
| 407 | + | c, t | dbSNP:11551849 |
| 478 | + | a, g | dbSNP:12739 |
| 482 | + | a, t | dbSNP:1894263 |
| complement(535) | - | t, g | dbSNP:76077503 |
| 536 | + | a, g | dbSNP:11551837 |
| 559 | + | c, t | dbSNP:2066870 |
| 670 | + | a, g | dbSNP:11551845 |
| 672 | + | a, c | dbSNP:11551847 |
| 712 | + | a, g | dbSNP:6063 |
| 715..716 | + | c, t | dbSNP:11551846 |
| 738..739 | + | a, g | dbSNP:11551838 |
| complement(797) | - | c, a | dbSNP:36102237 |
| complement(1240) | - | t, c | dbSNP:78257946 |
| 1342 | + | c, t | dbSNP:75848804 |
| 1369 | + | a, g | dbSNP:6061 |
| complement(1422) | - | , g | dbSNP:35443439 |
| complement(1437) | - | , largedeletion | dbSNP:71838267 |
| complement(1535) | - | g, a | dbSNP:75785972 |
| Title | Hepatitis B spliced protein (HBSP) generated by a spliced hepatitis . |
| Author | Chen,J.Y., Chen,W.N., Liu,L.L., Lin,W.S., Jiao,B.Y., Wu,Y.L., Lin,J.Y. and Lin,X. |
| Journal | J. Med. Virol. 82 (12), 2019-2026 (2010) |
| Title | Substitution (gamma335Trp-->Arg) in fibrinogen Fremantle causes diminished gamma chain expression and increased sialic acid content . |
| Author | Brennan,S.O. and Davis,R.L. |
| Journal | Thromb. Haemost. 104 (6), 1274-1276 (2010) |
| Title | Novel fibrinogen mutation gamma314Thr-->Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia . |
| Author | Brennan,S.O., Davis,R.L., Conard,K., Savo,A. and Furuya,K.N. |
| Journal | Liver Int. 30 (10), 1541-1547 (2010) |
| Title | The fibrinogen gamma 10034C>T polymorphism is not associated with Peripheral Arterial Disease . |
| Author | Bahadori,B., Uitz,E., Dehchamani,D., Pilger,E. and Renner,W. |
| Journal | Thromb. Res. 126 (4), 350-352 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Assembly and secretion of fibrinogen. Degradation of individual chains . |
| Author | Roy,S., Yu,S., Banerjee,D., Overton,O., Mukhopadhyay,G., Oddoux,C., Grieninger,G. and Redman,C. |
| Journal | J. Biol. Chem. 267 (32), 23151-23158 (1992) |
| Title | Heterozygous abnormal fibrinogen Osaka III with the replacement of gamma arginine-275 by histidine has an apparently higher molecular weight gamma-chain variant . |
| Author | Yoshida,N., Imaoka,S., Hirata,H., Matsuda,M. and Asakura,S. |
| Journal | Thromb. Haemost. 68 (5), 534-538 (1992) |
| Title | Gene analyses of abnormal fibrinogens with a mutation in the gamma chain . |
| Author | Mimuro,J., Muramatsu,S., Maekawa,H., Sakata,Y., Kaneko,M., Yoshitake,S., Okuma,M., Ito,Y., Takeda,Y. and Matsuda,M. |
| Journal | Int. J. Hematol. 56 (2), 129-134 (1992) |
| Title | Polymorphism of the human gamma chain fibrinogen gene . |
| Author | Marchetti,L., Zanelli,T., Malcovati,M. and Tenchini,M.L. |
| Journal | DNA Seq. 1 (6), 419-422 (1991) |
| Title | Disulfide bridges in nh2 -terminal part of human fibrinogen . |
| Author | Blomback,B., Hessel,B. and Hogg,D. |
| Journal | Thromb. Res. 8 (5), 639-658 (1976) |
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