FAM20A
FAM20A je protein koji je kod ljudi kodiran genom FAM20A.[5]
Dužina polipeptidnog lanca je 541 aminokiselinu, sa molekulskom težinom od 61.417[6].
Aminokiselinska sekvenca
- Simboli
C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MPGLRRDRLL | TLLLLGALLS | ADLYFHLWPQ | VQRQLRPRER | PRGCPCTGRA | ||||
| SSLARDSAAA | ASDPGTIVHN | FSRTEPRTEP | AGGSHSGSSS | KLQALFAHPL | ||||
| YNVPEEPPLL | GAEDSLLASQ | EALRYYRRKV | ARWNRRHKMY | REQMNLTSLD | ||||
| PPLQLRLEAS | WVQFHLGINR | HGLYSRSSPV | VSKLLQDMRH | FPTISADYSQ | ||||
| DEKALLGACD | CTQIVKPSGV | HLKLVLRFSD | FGKAMFKPMR | QQRDEETPVD | ||||
| FFYFIDFQRH | NAEIAAFHLD | RILDFRRVPP | TVGRIVNVTK | EILEVTKNEI | ||||
| LQSVFFVSPA | SNVCFFAKCP | YMCKTEYAVC | GNPHLLEGSL | SAFLPSLNLA | ||||
| PRLSVPNPWI | RSYTLAGKEE | WEVNPLYCDT | VKQIYPYNNS | QRLLNVIDMA | ||||
| IFDFLIGNMD | RHHYEMFTKF | GDDGFLIHLD | NARGFGRHSH | DEISILSPLS | ||||
| QCCMIKKKTL | LHLQLLAQAD | YRLSDVMRES | LLEDQLSPVL | TEPHLLALDR | ||||
| RLQTILRTVE | GCIVAHGQQS | VIVDGPVEQL | APDSGQANLT | S |
Funkcija
FAM20A pripada porodici evolucijski konzerviranih lučenih proteina eksprimiranih u mnogim tkivima. Ovaj lokus kodira protein koji se vjerovatno luči i može funkcionirati u hematopoezi.[7] Mutacija na ovom lokusu povezana je s bolešću amelogenesis imperfecta i sindromom hiperplazije desni (gingiva). Utvrđene su alternativno prerađene varijante transkripata. [RefSeq, avgust 2011.]
Klinički značaj
Izvješteno je da je mutacija u FAM20A povezana sa amelogenesis imperfecta, nasljednim defektom cakline i sindromom hiperplazija desni.[8]
Izvješteno je i da mutacije u FAM20A kod ljudi uzrokuju sindrom cakline i bubrega, autosomno recesivni poremećaj koji se karakterizira ozbiljnom hipoplazijom cakline, neuspjelom nicanjem zuba, intrapulpnim kalcifikacijama, povećanom gingivom i nefrokalcinozom.[9]
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000108950 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020614 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: family with sequence similarity 20".
- ^ "UniProt, Q96MK3". Pristupljeno 12. 9. 2017.
- ^ Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC (2005). "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics. 6 (1): 11. doi:10.1186/1471-2164-6-11. PMC 548683. PMID 15676076.
- ^ O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ (maj 2011). "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome". Am. J. Hum. Genet. 88 (5): 616–20. doi:10.1016/j.ajhg.2011.04.005. PMC 3146735. PMID 21549343.
- ^ Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC (Feb 2013). "FAM20A mutations can cause enamel-renal syndrome (ERS)". PLOS Genet. 9 (2): e1003302. doi:10.1371/journal.pgen.1003302. PMC 3585120. PMID 23468644.
Content Disclaimer
Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.
- The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
- There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
- It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
- Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
- Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.
