NFS1

Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described.

NFS1, Cysteine Desulfurase

Catalyzes the removal of elemental sulfur from cysteine to produce alanine (PubMed:18650437).
It supplies the inorganic sulfur for iron-sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenum cofactor (PubMed:18650437).

[2Fe-2S] cluster assemblyIEA:InterPro
Iron incorporation into metallo-sulfur clusterManual Assertion Based On ExperimentIDA:HGNC-UCL
Iron-sulfur cluster assemblyManual Assertion Based On ExperimentIBA:GO_Central
Mo-molybdopterin cofactor biosynthetic processIEA:UniProtKB-KW

Isoform Mitochondrial
Mitochondrion
Isoform Cytoplasmic
Cytoplasm
Nucleus

Combined oxidative phosphorylation deficiency 52 (COXPD52):
An autosomal recessive mitochondrial disorder with onset in infancy, characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria.