PDE1C Chromosome 7
Phosphodiesterase 1C
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What This Gene Does
This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000154678
Associated Conditions (3)
Hearing loss
autosomal dominant 74
Autosomal dominant nonsyndromic hearing loss
Key Variants
RS2534865414
Likely pathogenic
Hearing loss, autosomal dominant 74, Hearing loss
Health Risk
RS368406121
Likely pathogenic
Hearing loss, autosomal dominant 74, Hearing loss
Health Risk
RS775633137
Pathogenic/Likely pathogenic
Hearing loss, autosomal dominant 74, Autosomal dominant nonsyndromic hearing loss
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2534865414 | Health Risk | Likely pathogenic | Hearing loss, autosomal dominant 74, Hearing loss |
| RS368406121 | Health Risk | Likely pathogenic | Hearing loss, autosomal dominant 74, Hearing loss |
| RS775633137 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal dominant 74, Autosomal dominant nonsyndromic hearing loss |