Stress-70 protein, mitochondrial

Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). May play a role in cell cycle regulation via its interaction with and promotion of degradation of TP53 (PubMed:24625977, PubMed:26634371). May play a role in the control of cell proliferation and cellular aging (By similarity). Molecular adapter that regulates mitochondrial calcium-dependent apoptosis by coupling two calcium channels, ITPR1 and VDAC1, at the mitochondria-associated endoplasmic reticulum (ER) membrane to facilitate calcium transport from the ER lumen to the mitochondria intermembrane space, thus providing calcium for the downstream calcium channel MCU that directly releases it into mitochondria matrix (By similarity).

Anemia, sideroblastic, 4

SIDBA4

A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families.

None

The disease is caused by variants affecting the gene represented in this entry.

Even-plus syndrome

EVPLS

An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the heat shock protein 70 family.

• Mitochondrion
• Nucleus
• Nucleolus
• Cytoplasm
• Mitochondrion matrix
• Found in a complex with HSPA9 and VDAC1 at the endoplasmic reticulum-mitochondria contact sites.

GRP75, HSPA9B, mt-HSP70, HSPA9, 75 kDa glucose-regulated protein, Heat shock 70 kDa protein 9, Heat shock protein family A member 9, Mortalin, Peptide-binding protein 74, GRP-75, MOT, PBP74

• entrezGene:3313
• omim:600548
• swissprot:P38646

Proteins

Neuroscience

73680Da