PRX Chromosome 19
Periaxin
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What This Gene Does
This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105227
Associated Conditions (12)
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4F
Tip-toe gait
PRX-related disorder
Dejerine-Sottas disease
Autosomal recessive Dejerine-Sottas syndrome
Developmental cataract
type I
Gaucher disease
Peripheral neuropathy
Key Variants
RS10425452
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS1160407003
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS116139153
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS1167411868
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS117336941
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS1177784082
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
Health Risk
RS1179595016
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
Health Risk
RS1340076007
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
Health Risk
RS1352237419
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS139188673
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
Health Risk
RS139544245
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
Health Risk
RS139624657
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
All Variants (158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1599652316 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1599662669 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 |
| RS2145727241 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F |
| RS752095452 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS754521978 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive Dejerine-Sottas syndrome, Charcot-Marie-Tooth disease type 4, Autosomal recessive Dejerine-Sottas syndrome |
| RS756689732 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, type I |
| RS773009397 | Health Risk | Pathogenic/Likely pathogenic | Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4, Dejerine-Sottas disease |
| RS797045102 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive Dejerine-Sottas syndrome, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4 |