NFU1

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What is the official name of the NFU1 gene?

The official name of this gene is “NFU1 iron-sulfur cluster scaffold.”

NFU1 is the gene's official symbol. The NFU1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the NFU1 gene?

The NFU1 gene provides instructions for making a protein involved in the formation of molecules called iron-sulfur (Fe-S) clusters. These clusters are attached to certain other proteins and are required for their proper function.

Two versions (isoforms) of the NFU-1 protein are produced from the NFU1 gene. One version is found in cellular structures called mitochondria. Mitochondria are the energy-producing centers of cells. In these structures, several proteins carry out a series of chemical steps to convert the energy in food into a form that cells can use. Many of the proteins involved in this process require Fe-S clusters to function, including protein complexes called complex I, complex II, and complex III.

Fe-S clusters are also required for another mitochondrial protein to function; this protein is involved in the modification of additional proteins that aid in energy production in mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex. This modification is also critical to the function of the glycine cleavage system, a set of proteins that breaks down a protein building block (amino acid) called glycine when levels become too high.

The other version of the NFU-1 protein is found in the fluid-filled space inside the cell (the cytoplasm). While this protein is likely involved in Fe-S cluster formation in the cytoplasm, the role of this isoform is not well understood.

How are changes in the NFU1 gene related to health conditions?

multiple mitochondrial dysfunctions syndrome - caused by mutations in the NFU1 gene: Mutations in the NFU1 gene can cause multiple mitochondrial dysfunctions syndrome. This severe condition is characterized by impairment of more than one mitochondrial function, such as reduced activity of complex I, II, or III, pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, or the glycine cleavage system. Affected infants often have severe brain dysfunction (encephalopathy) and elevated levels of a chemical called lactic acid in the body (lactic acidosis). These babies usually do not survive past infancy.

NFU1 gene mutations lead to production of an altered NFU-1 protein that is likely broken down quickly. Although some mutations affect both isoforms of the NFU-1 protein, loss of the mitochondrial version appears to be responsible for the condition. The lack of mitochondrial NFU-1 protein impairs Fe-S cluster formation. Consequently, proteins affected by the presence of Fe-S clusters, including those involved in energy production and glycine breakdown, cannot function normally. Reduced activity of complex I, II, or III, pyruvate dehydrogenase, or alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of the glycine cleavage system leads to a buildup of glycine (hyperglycinemia).

Where is the NFU1 gene located?

Cytogenetic Location: 2p15-p13

Molecular Location on chromosome 2: base pairs 69,396,112 to 69,437,627

The NFU1 gene is located on the short (p) arm of chromosome 2 between positions 15 and 13.

More precisely, the NFU1 gene is located from base pair 69,396,112 to base pair 69,437,627 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about NFU1?

You and your healthcare professional may find the following resources about NFU1 helpful.

Educational resources - Information pages
Molecular Cell Biology (fourth edition, 2000): Electron Transport and OxidativePhosphorylation
Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (2 links)

What other names do people use for the NFU1 gene or gene products?

CGI-33
HIRA-interacting protein 5
HIRIP
HIRIP5
iron-sulfur cluster scaffold protein
MMDS1
Nfu
NFU1_HUMAN
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 1
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 2
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 3
NifU
NIFUC
NifU-like C-terminal domain containing

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding NFU1?

acidosis ; amino acid ; breakdown ; cell ; cytoplasm ; dehydrogenase ; domain ; encephalopathy ;gene ; glycine ; iron ; isoforms ; lactic acid ; lactic acidosis ; mitochondria ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook