FLAD1 gene

flavin adenine dinucleotide synthetase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

From UniProt:

Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.

From NCBI Gene:

  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

From UniProt:

Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD): An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients. [MIM:255100]

Cytogenetic Location: 1q21.3, which is the long (q) arm of chromosome 1 at position 21.3

Molecular Location: base pairs 154,983,294 to 154,993,111 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q21.3, which is the long (q) arm of chromosome 1 at position 21.3
  • FAD1
  • FADS
  • LSMFLAD
  • PP591