Dermatopontin

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Alternative Names

  • DPT

Associated Diseases

Glaucoma 3, Primary Congenital, A
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OMIM Number

125597

NCBI Gene ID

1805

Uniprot ID

Q07507

Length

33,750 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Dermatopontin

Molecular Mass

24005 Da

Amino Acid Count

201

Genomic Location

chr1:168,695,457-168,729,206

Gene Map Locus
1q24.2

Description

Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001937.5:c.446A>GLebanonchr1:168701110Likely PathogenicGlaucoma 3, Primary Congenital, ANM_001937.5:c.446A>G; NP_001928.2:p.Tyr149Cy777651623
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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT https://www.ncbi.nlm.nih.gov/gene/1805

Contributors

  • Pratibha Nair: 30.04.2020

Edit History

  • Pratibha Nair: 30.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.