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FLASH GENE

Symbol

FTL

contributors: mct/npt - updated : 14-03-2018

HGNC name	ferritin, light polypeptide
HGNC id	3999

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CAHF , NBIA3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       Ln1 variant produced by the 460InsA mutation low efficiency in iron incorporation tumoral     --over   high amounts of FTL-positive microglia/macrophages had a negative prognostic value in astrocytoma tumoral     --over   expression of FTL was higher in patients with glioblastoma multiforme (GBM) than in those with low-grade glioma

Susceptibility

hereditary ferritinopathies

Variant & Polymorphism insertion/deletion	various nucleotide insertions
	Ln1 most common variant due to an "a" nucleotide insertion at position 460
	pathogenic effects of Ln1 expression are more likely due to deregulation of cellular iron homeostasis rather than to protein conformational problems

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS