CISD2

CISD2 (CDGSH Iron Sulfur Domain 2) is a protein that in humans is encoded by the CISD2 gene. It is a member of the CDGSH Iron-Sulfur Domain-containing protein family and is known to play a crucial role in various biological processes.

Function

CISD2 is a key player in the maintenance of mitochondrial homeostasis. It is involved in the regulation of calcium homeostasis, autophagy, and mitochondrial biogenesis. The protein is located in the endoplasmic reticulum and mitochondria, where it interacts with BCL-2, an anti-apoptotic protein, to regulate calcium homeostasis and autophagy.

Clinical significance

Mutations in the CISD2 gene are associated with Wolfram syndrome 2, a rare autosomal recessive neurodegenerative disorder. The syndrome is characterized by diabetes mellitus, optic atrophy, deafness, and various other neurological and psychiatric features.

Research

Research on CISD2 has been focused on understanding its role in mitochondrial homeostasis and its implications in diseases such as Wolfram syndrome 2 and cancer. Studies have shown that CISD2 deficiency leads to mitochondrial dysfunction, which is a common feature in many neurodegenerative diseases and cancers.

See also

• CDGSH Iron Sulfur Domain
• Wolfram syndrome
• Mitochondrial biogenesis
• Autophagy

References

<references />

   This article is a medical stub. You can help WikiMD by expanding it!