DMP1

Chr 4AR

dentin matrix acidic phosphoprotein 1

Also known as: ARHP, ARHR, DMP-1

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypophosphatemic rickets, ARMIM #241520
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
125
Pubs (1 yr)
P/LP submissions
P/LP missense
1.14
LOEUF
LOF
Mechanism· G2P
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GeneReview available — DMP1
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.000
Z-score 1.11
OE 0.72 (0.471.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.27Z-score
OE missense 0.95 (0.861.06)
255 obs / 267.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.471.14)
00.351.4
Missense OE?0.95 (0.861.06)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 13 / 18.1Missense obs/exp: 255 / 267.6Syn Z: 0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DMP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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