AP5Z1 explained

AP-5 complex subunit zeta (AP5Z1) is a protein that in humans is encoded by the AP5Z1 gene.[1]

Function

The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex. Damaging variants in this gene are associated with SPG48, a type of hereditary spastic paraplegia.[2] [3]

References

  1. Hirst . Jennifer . Barlow . Lael D. . Francisco . Gabriel Casey . Sahlender . Daniela A. . Seaman . Matthew N. J. . Dacks . Joel B. . Robinson . Margaret S. . 2011-10-11 . The fifth adaptor protein complex . PLOS Biology . 9 . 10 . e1001170 . 10.1371/journal.pbio.1001170 . 1545-7885 . 3191125 . 22022230 . free .
  2. Słabicki . Mikołaj . Theis . Mirko . Krastev . Dragomir B. . Samsonov . Sergey . Mundwiller . Emeline . Junqueira . Magno . Paszkowski-Rogacz . Maciej . Teyra . Joan . Heninger . Anne-Kristin . Poser . Ina . Prieur . Fabienne . 2010-06-29 . A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia . PLOS Biology . 8 . 6 . e1000408 . 10.1371/journal.pbio.1000408 . 1545-7885 . 2893954 . 20613862 . free .
  3. Hirst . Jennifer . Madeo . Marianna . Smets . Katrien . Edgar . James R. . Schols . Ludger . Li . Jun . Yarrow . Anna . Deconinck . Tine . Baets . Jonathan . Van Aken . Elisabeth . De Bleecker . Jan . 2016-08-25 . Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) . Neurology. Genetics . 2 . 5 . e98 . 10.1212/NXG.0000000000000098 . 2376-7839 . 5001803 . 27606357.

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