dentin sialophosphoprotein
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L DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. Soon after it is produced, this protein is cut into two smaller proteins: dentin sialoprotein and dentin phosphoprotein. These proteins are components of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. A third smaller protein produced from dentin sialophosphoprotein, called dentin glycoprotein, was identified in pigs but has not been found in humans.
Normal function
L DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. Soon after it is produced, this protein is cut into two smaller proteins: dentin sialoprotein and dentin phosphoprotein. These proteins are components of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. A third smaller protein produced from dentin sialophosphoprotein, called dentin glycoprotein, was identified in pigs but has not been found in humans.
Although the exact functions of the DSPP-derived proteins are unknown, these proteins appear to be essential for normal tooth development. Dentin phosphoprotein is thought to be involved in the normal hardening of collagen, the most abundant protein in dentin. Specifically, dentin phosphoprotein may play a role in the deposition of mineral crystals among collagen fibers (mineralization).
L DSPP gene is also active in the inner ear, although it is unclear whether it plays a role in normal hearing.
Conditions referring to this gene or chromosome
Altri nomi
dentin glycoprotein
dentin phosphophoryn
dentin phosphoprotein
dentin phosphoryn
dentin sialoprotein
DFNA39
DGI1
DGP
DPP
DSP
DSPP_HUMAN
DTDP2
Ulteriori letture e riferimenti
- dentin sialophosphoprotein; MedlinePlus, National Library of Medicine.
- Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res. 2006 Apr;85(4):329-33. doi: 10.1177/154405910608500409.
- Dong J, Gu T, Jeffords L, MacDougall M. Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. Am J Med Genet A. 2005 Jan 30;132A(3):305-9. doi: 10.1002/ajmg.a.30460.
- Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH, Simmer JP. Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2005 Feb;116(3):186-91. doi: 10.1007/s00439-004-1223-6. Epub 2004 Dec 8.
- Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2004 Aug;115(3):248-54. doi: 10.1007/s00439-004-1143-5. Epub 2004 Jul 6.
- MacDougall M, Dong J, Acevedo AC. Molecular basis of human dentin diseases. Am J Med Genet A. 2006 Dec 1;140(23):2536-46. doi: 10.1002/ajmg.a.31359.
- Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet. 2004 Apr;114(5):491-8. doi: 10.1007/s00439-004-1084-z. Epub 2004 Feb 3.
- McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008 Dec;87(12):1108-11. doi: 10.1177/154405910808701217.
- McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat. 2008 Dec;29(12):1392-404. doi: 10.1002/humu.20783.
- Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 Sep;102(3):360-74. doi: 10.1016/j.tripleo.2005.06.020. Epub 2006 Jun 16.
- Song YL, Wang CN, Fan MW, Su B, Bian Z. Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. J Med Genet. 2008 Jul;45(7):457-64. doi: 10.1136/jmg.2007.056911. Epub 2008 May 2.
- Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001 Feb;27(2):201-4. doi: 10.1038/84848.
- Yamakoshi Y, Hu JC, Fukae M, Iwata T, Kim JW, Zhang H, Simmer JP. Porcine dentin sialoprotein is a proteoglycan with glycosaminoglycan chains containing chondroitin 6-sulfate. J Biol Chem. 2005 Jan 14;280(2):1552-60. doi: 10.1074/jbc.M409606200. Epub 2004 Nov 10.
- Yamakoshi Y, Hu JC, Fukae M, Zhang H, Simmer JP. Dentin glycoprotein: the protein in the middle of the dentin sialophosphoprotein chimera. J Biol Chem. 2005 Apr 29;280(17):17472-9. doi: 10.1074/jbc.M413220200. Epub 2005 Feb 23.
- Yamakoshi Y, Hu JC, Iwata T, Kobayashi K, Fukae M, Simmer JP. Dentin sialophosphoprotein is processed by MMP-2 and MMP-20 in vitro and in vivo. J Biol Chem. 2006 Dec 15;281(50):38235-43. doi: 10.1074/jbc.M607767200. Epub 2006 Oct 17.
- Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet. 2001 Feb;27(2):151-2. doi: 10.1038/84765.
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