DMP1 (Dentin Matrix Acidic Phosphoprotein 1) Gene
Key regulator of bone and dentin mineralization
Gene Information Card
| Symbol | DMP1 |
|---|---|
| Full Name | Dentin Matrix Acidic Phosphoprotein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 1758 ncbi.nlm.nih.gov/gene/1758 |
| Ensembl ID | ENSG00000152592 |
| UniProt ID | Q13316 |
| OMIM ID | 600980 |
| HGNC ID | 2932 |
| Aliases | ARHR, DMP-1, MGC17546 |
Description
DMP1 (Dentin Matrix Acidic Phosphoprotein 1) encodes an extracellular matrix protein critical for biomineralization of bone and dentin. It is primarily expressed in osteocytes and odontoblasts, where it regulates phosphate metabolism and hydroxyapatite crystal formation. Mutations in DMP1 cause autosomal recessive hypophosphatemic rickets (ARHR) due to impaired FGF23 regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive hypophosphatemic rickets (ARHR) | Loss-of-function mutations in DMP1 disrupt FGF23 suppression, leading to renal phosphate wasting and defective mineralization | OMIM #241520; ClinVar |
| Osteomalacia | DMP1 deficiency impairs osteocyte-mediated phosphate homeostasis, causing bone softening | NCBI Gene; PubMed studies |
| Dentinogenesis imperfecta (non-syndromic) | DMP1 mutations alter dentin matrix mineralization, leading to tooth discoloration and fragility | OMIM; HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | High |
| Tooth (dentin/pulp) | 8.3 | High |
| Kidney | 0.2 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteocytes (primary) | 45.2 | Highest expression in bone |
| Odontoblasts (primary) | 38.7 | Key for dentin formation |
| Saos-2 (osteosarcoma) | 22.1 | Osteoblast-like cell line |
| HEK293 | 0.3 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.485_486delCT | Frameshift | Rare | Loss of function; causes ARHR |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Impaired protein secretion and mineralization |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; severe ARHR |
Mutation functional classification
Loss of Function (LOF)
Most DMP1 mutations are loss-of-function, leading to reduced or absent protein activity, disrupting FGF23 regulation and causing hypophosphatemic rickets.
Gain of Function (GOF)
No gain-of-function mutations reported in DMP1.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGF23 signaling pathway (Reactome: R-HSA-8853659)
• Mineral absorption (KEGG: hsa04978)
• Osteoclast differentiation (KEGG: hsa04380)
Protein Summary
DMP1 is a 513-amino-acid acidic phosphoprotein secreted into the extracellular matrix of bone and dentin. It undergoes proteolytic cleavage into N-terminal (37 kDa) and C-terminal (57 kDa) fragments. The C-terminal fragment binds calcium and promotes hydroxyapatite nucleation. DMP1 also regulates FGF23 expression in osteocytes, linking it to systemic phosphate homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMP1 Knockout HEK293 Cell Line | EDJ-KQ4455 | Human | 1758 | Details Get a Quote |
| DMP1 Knockout HeLa Cell Line | EDJ-KQ53095 | Human | 1758 | Details Get a Quote |
| DMP1 Knockout A-549 Cell Line | EDJ-KQ61568 | Human | 1758 | Details Get a Quote |
| DMP1 Knockout HCT 116 Cell Line | EDJ-KQ70058 | Human | 1758 | Details Get a Quote |
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