DNAJB5 Chromosome 9

DnaJ heat shock protein family (Hsp40) member B5
3 variants 3 Health Risk

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What This Gene Does
This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks the cysteine-rich domain found in other DNAJ family members. In mice, a multi-protein complex containing this protein, thioredoxin 1, and histone deacetylase 4, serves as a master negative regulator of cardiac hypertrophy. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000137094
Associated Conditions (2)
Skeletal myopathy
Peripheral neuropathy
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS200844864 Health Risk Conflicting classifications of pathogenicity
RS772171150 Health Risk Conflicting classifications of pathogenicity
RS774909609 Health Risk Conflicting classifications of pathogenicity Skeletal myopathy, Peripheral neuropathy, Skeletal myopathy
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