NFU1
Developmental stage
Expressed in embryo and adult.
Function
Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins.
Involvement in disease
Multiple mitochondrial dysfunctions syndrome 1
MMDS1
A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the NifU family.
Tissue Specificity
Ubiquitous. Expression in adult lung is weak compared to fetal lung.
Cellular localization
- Mitochondrion
- Cytoplasm
- Cytosol
Alternative names
HIRIP5, CGI-33, NFU1, HIRA-interacting protein 5