DMP1 gene

dentin matrix acidic phosphoprotein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Autosomal recessive hypophosphatemic vitamin D refractory rickets

From UniProt:

Hypophosphatemic rickets, autosomal recessive, 1 (ARHR1): A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. [MIM:241520]

Cytogenetic Location: 4q22.1, which is the long (q) arm of chromosome 4 at position 22.1

Molecular Location: base pairs 87,650,302 to 87,664,361 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q22.1, which is the long (q) arm of chromosome 4 at position 22.1
  • ARHP
  • ARHR
  • DMP-1