CISD1
Description
The CISD1 (CDGSH iron sulfur domain 1) is a protein-coding gene located on chromosome 10.
CISD1 is an L-cysteine transaminase that catalyzes the reversible transfer of the amino group from L-cysteine to the alpha-keto acid 2-oxoglutarate, producing 2-oxo-3-sulfanylpropanoate and L-glutamate. This process involves pyridoxal 5'-phosphate (PLP) as a cofactor and proceeds through an aldimine intermediate. CISD1 plays a crucial role in regulating the maximal capacity for electron transport and oxidative phosphorylation. It might also be involved in iron-sulfur cluster shuttling and redox reactions. CISD1 can transfer the [2Fe-2S] cluster to an apo-acceptor protein only when in the oxidation state, acting as a redox sensor that regulates mitochondrial iron-sulfur cluster assembly and iron trafficking under oxidative stress.
CISD1 is also known as C10orf70, MDS029, ZCD1, mitoNEET.
Associated Diseases
- thrombocytopenia 4
- macrothrombocytopenia, isolated, 2, autosomal dominant
- FRAXF syndrome
- cancer
- platelet-type bleeding disorder 15
- autosomal dominant macrothrombocytopenia
- platelet-type bleeding disorder 10
- thrombocytopenia 2
- bleeding disorder, platelet-type, 24
