DPT Chromosome 1

Dermatopontin

1 variant 1 Health Risk

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What This Gene Does

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. [provided by RefSeq, Jul 2008]

Associated Conditions (1)

Progressive sensorineural hearing impairment

Key Variants

RS748718975

Pathogenic

Progressive sensorineural hearing impairment, Progressive sensorineural hearing impairment

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS748718975	Health Risk	Pathogenic	Progressive sensorineural hearing impairment, Progressive sensorineural hearing impairment