HSCB

Chr 22q12.1

HscB mitochondrial iron-sulfur cluster cochaperone

Aliases:: HSC20, DNAJC20, Jac1
MANE:: ENST00000216027.8

OMIM: 608142 ↗NCBI: 150274 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

HSCB · Q8IWL3

v62025-08-01

Predicted Aligned Error matrix for HSCB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.3/ 100

Confident

235 residues

Confidence breakdown

Very high(≥ 90)70%
Confident(70–90)10%
Low(50–70)6%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Rare anaemia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

X-linked sideroblastic anemia 1
0.53
neurodegenerative disease
0.52
lysosomal storage disease
0.27
atrial fibrillation
0.26
glaucoma
0.17
carcinoma of esophagus
0.16
open-angle glaucoma
0.15
gout
0.12
breast carcinoma
0.12
esophageal squamous cell carcinoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Iron-sulfur cluster co-chaperone protein HscB

Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria (PubMed:20668094). Required for incorporation of iron-sulfur clusters into SDHB, the iron-sulfur protein subunit of succinate dehydrogenase that is involved in complex II of the mitochondrial electron transport chain (PubMed:26749241). Recruited to SDHB by interaction with SDHAF1 which first binds SDHB and then recruits the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20 (PubMed:26749241). Plays an essential role in hematopoiesis (By similarity)