HSCB Chromosome 22
HscB mitochondrial iron-sulfur cluster cochaperone
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What This Gene Does
This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent enzymes including succinate dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
22q12.1
Ensembl
ENSG00000100209
Associated Conditions (3)
Anemia
sideroblastic
5
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS551244874 | Health Risk | Pathogenic | Anemia, sideroblastic, 5 |
| RS773607816 | Health Risk | Pathogenic | Anemia, sideroblastic, 5 |