FTL wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FTL wild-type allele is located in the vicinity of 19q13.33 and is approximately 3 kb in length. This allele, which encodes ferritin light chain protein, plays a role in iron uptake and release. Mutations in the gene are associated with hyperferritinemia-cataract syndrome, neurodegeneration with brain iron accumulation 3 and both the dominant and recessive forms of L-ferritin deficiency.

**Synonyms:** - Epididymis Secretory Sperm Binding Protein Gene - FTL1 - Ferritin L-Chain Gene - Ferritin Light Chain wt Allele - Ferritin Light Polypeptide-Like 3 Gene - Ferritin, Light Polypeptide Gene - L Apoferritin Gene - LFTD - MGC71996 - NBIA3 - Neurodegeneration with Brain Iron Accumulation 3 Gene