ANKFY1 explained

Ankyrin repeat and FYVE domain-containing protein 1 is a protein that in humans is encoded by the ANKFY1 gene.[1] [2] [3]

Function

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternative splicing has been observed at this locus and two variants, each encoding a distinct isoform, have been identified.

Further reading

Notes and References

  1. Kuriyama H, Asakawa S, Minoshima S, Maruyama H, Ishii N, Ito K, Gejyo F, Arakawa M, Shimizu N, Kuwano R . Characterization and chromosomal mapping of a novel human gene, ANKHZN . Gene . 253 . 2 . 151–60 . Aug 2000 . 10940552 . 10.1016/S0378-1119(00)00247-X .
  2. Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Augé A, Santorelli FM, Durr A, Brice A, Yahyaoui M, Stevanin G . A novel locus for autosomal recessive spastic ataxia on chromosome 17p . Human Genetics . 121 . 3–4 . 413–20 . May 2007 . 17273843 . 10.1007/s00439-007-0328-0 . 11187568 .
  3. Web site: Entrez Gene: ANKFY1 ankyrin repeat and FYVE domain containing 1.