DSPP dentin sialophosphoprotein
Gene ID: 1834, updated on 17-Sep-2024Gene type: protein coding
Also known as: DPP; DSP; DGI1; DMP3; DFNA39
- See all available tests in GTR for this gene
- Go to complete Gene record for DSPP
- Go to Variation Viewer for DSPP variants
Summary
This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mutations in this gene are associated with dentinogenesis imperfecta and dentin dysplasia. This gene is present in a gene cluster on chromosome 4. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jan 2016]
Associated conditions
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| Description | Tests |
|---|---|
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | See labs |
| Denticles | See labs |
| Dentinogenesis imperfecta type 2 | See labs |
| Dentinogenesis imperfecta type 3 | See labs |
| GWAS of dental caries patterns in the permanent dentition. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2013-03-27) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2013-03-27) ClinGen Genome Curation Page |
Genomic context
- Location:
- 4q22.1
- Sequence:
- Chromosome: 4; NC_000004.12 (87608529..87616873)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DSPP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DSPP database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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