TIMM17B
Description
The TIMM17B (translocase of inner mitochondrial membrane 17B) is a protein-coding gene located on chromosome X.
TIMM17B is a crucial part of the TIM23 complex, which is responsible for transporting proteins with transit peptides across the inner membrane of mitochondria.
TIMM17B is also known as DXS9822, JM3, TIM17B.
Associated Diseases
- Crigler-Najjar syndrome type 2
- Rh deficiency syndrome
- thrombocythemia 2
- gluthathione peroxidase deficiency
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- elliptocytosis 2
- familial isolated congenital asplenia
- primary familial polycythemia due to EPO receptor mutation
- thrombocytopenia 4
- hemolytic anemia due to glutathione reductase deficiency
- dehydrated hereditary stomatocytosis
- thrombocytopenia 7
- hereditary spherocytosis type 4
- transient familial neonatal hyperbilirubinemia
- hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- breast cancer
- platelet-type bleeding disorder 15
- erythrocytosis, familial, 6
- erythrocytosis, familial, 3
- thrombocytopenia 2