HSPA9
Chr 5ADARheat shock protein family A (Hsp70) member 9
Also known as: CRP40, CSA, EVPLS, GRP-75, GRP75, HEL-S-124m, HSPA9B, MOT
The protein functions as a mitochondrial chaperone essential for protein import, folding and assembly, and plays a critical role in iron-sulfur cluster biogenesis and erythropoiesis. Mutations cause sideroblastic anemia 4 and Even-plus syndrome through both autosomal dominant and autosomal recessive inheritance patterns. The pathogenic mechanism involves disruption of mitochondrial protein quality control and iron-sulfur cluster assembly, leading to defective erythropoiesis and cellular dysfunction.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HSPA9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools