NFS1 Chromosome 20

NFS1 cysteine desulfurase
2 variants 2 Health Risk

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What This Gene Does
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. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
Mitochondrial iron-sulfur assembly components
Locus Type
gene with protein product
Location
20q11.22
Ensembl
ENSG00000244005
Associated Conditions (2)
Combined oxidative phosphorylation deficiency 52
NFS1-related disorder
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS200592030 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 52, Combined oxidative phosphorylation deficiency 52
RS763462869 Health Risk Conflicting classifications of pathogenicity NFS1-related disorder, NFS1-related disorder
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