DMP1 Chromosome 4
Dentin matrix acidic phosphoprotein 1
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What This Gene Does
Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SIBLING family
Locus Type
gene with protein product
Location
4q22.1
Ensembl
ENSG00000152592
Associated Conditions (4)
Hypophosphatemic rickets
autosomal recessive
1
DMP1-related disorder
Key Variants
RS140807822
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS141480996
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS144471060
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS145237146
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS147451774
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS148543792
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS149026481
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS149603030
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS150896376
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS201761802
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS202210004
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
RS369550864
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 1
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140807822 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS141480996 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS144471060 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS145237146 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS147451774 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS148543792 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS149026481 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS149603030 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS150896376 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS201761802 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS202210004 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS369550864 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS780110476 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746846045 | Health Risk | Likely pathogenic | — |
| RS899142959 | Health Risk | Likely pathogenic | Hypophosphatemic rickets, Hypophosphatemic rickets |
| RS1027020354 | Health Risk | Pathogenic | — |
| RS104893834 | Health Risk | Pathogenic | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS1578152074 | Health Risk | Pathogenic | Hypophosphatemic rickets, Hypophosphatemic rickets |
| RS587776696 | Health Risk | Pathogenic | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS587776698 | Health Risk | Pathogenic | Hypophosphatemic rickets, autosomal recessive, 1 |
| RS753043959 | Health Risk | Pathogenic | — |
| RS766601503 | Health Risk | Pathogenic | — |
| RS587776697 | Health Risk | Pathogenic/Likely pathogenic | Hypophosphatemic rickets, autosomal recessive, 1 |