HSPB3 Chromosome 5
Heat shock protein family B (small) member 3
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What This Gene Does
This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Small heat shock proteins
Locus Type
gene with protein product
Location
5q11.2
Ensembl
ENSG00000169271
Associated Conditions (4)
Neuronopathy
distal hereditary motor
type 2C
Charcot-Marie-Tooth disease type 2
Key Variants
RS139382018
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2C
Health Risk
RS142626276
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS147724326
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2C
Health Risk
RS148535965
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2C
Health Risk
RS150931007
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2C
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139382018 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 2C |
| RS142626276 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS147724326 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 2C |
| RS148535965 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 2C |
| RS150931007 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 2C |