HSCB HscB mitochondrial iron-sulfur cluster cochaperone
Gene ID: 150274, updated on 19-Sep-2024Gene type: protein coding
Also known as: JAC1; HSC20; SIDBA5; DNAJC20
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- Go to complete Gene record for HSCB
- Go to Variation Viewer for HSCB variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. GeneReviews: Not available | |
| Anemia, sideroblastic, 5 | See labs |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available |
Genomic context
- Location:
- 22q12.1
- Sequence:
- Chromosome: 22; NC_000022.11 (28742032..28757510)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HSCB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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