Dentin Sialophosphoprotein (DSPP)

DSP; DFNA39; DGI1; DPP; DTDP2; DMP3; Dentin phosphoprotein; Dentin phosphophoryn; Dentin sialoprotein

SPN	U412
HGNC	3054
MGI	109172
PubMed	12097430
RGD	2525
UniProt	Q9NZW4
Wiki	DSPP

Dentin sialophosphoprotein, is the only protein produced uniquely by odontoblasts, the cells that produce tooth dentin. It is a non-collagenous SIBLING protein that is later cleaved into three functional proteins: dentin phosphoprotein (also known as phosphophoryn), taken from the C-terminal end, dentin sialoprotein from the N-terminal end, and dentin glycoprotein from the middle of the molecule. Their distribution in the collagen matrix of the forming dentin suggests these proteins play an important role in the regulation of mineral deposition. Additional evidence for this correlation is phenotypically manifested in patients with mutant forms of dentin sialophosphoprotein. Such patients suffer dental anomalies including type III dentinogenesis imperfecta.

Reference

"Molecular cloning of a human dentin sialophosphoprotein gene."
Eur. J. Oral Sci. 108:35-42(2000) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"Human dentin phosphophoryn nucleotide and amino acid sequence."
Eur. J. Oral Sci. 106:1043-1047(1998) [PubMed] [Europe PMC] [Abstract]

"DSPP mutation in dentinogenesis imperfecta Shields type II."
Nat. Genet. 27:151-152(2001) [PubMed] [Europe PMC] [Abstract]

"A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene."
Hum. Mutat. 29:1392-1404(2008) [PubMed] [Europe PMC] [Abstract]

"Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP."
Nat. Genet. 27:201-204(2001) [PubMed] [Europe PMC] [Abstract]

"Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization."
Hum. Mol. Genet. 11:2559-2565(2002) [PubMed] [Europe PMC] [Abstract]

"Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II."
Hum. Genet. 114:491-498(2004) [PubMed] [Europe PMC] [Abstract]

"Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II."
Hum. Genet. 116:186-191(2005) [PubMed] [Europe PMC] [Abstract]

"DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis."
Nat. Genet. 38:1248-1250(2006) [PubMed] [Europe PMC] [Abstract]

"Disorders of human dentin."
Cells Tissues Organs 186:70-77(2007) [PubMed] [Europe PMC] [Abstract]

"Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation."
Oral Dis. 17:314-319(2011) [PubMed] [Europe PMC] [Abstract]

"Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP."
J. Bone Miner. Res. 27:1309-1321(2012) [PubMed] [Europe PMC] [Abstract]

"A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect."
Biomed. Res. Int. 2013:948181-948181(2013) [PubMed] [Europe PMC] [Abstract]