The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.
Adaptor-associated protein kinase 1 also known as AP2-associated protein kinase 1 is an enzyme that in humans is encoded by the AAK1 gene and is involved in clathrin mediated endocytosis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.
Kinesin heavy chain isoform 5A is a protein that in humans is encoded by the KIF5A gene.
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.
AP-3 complex subunit sigma-1 is a protein that in humans is encoded by the AP3S1 gene.
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
Receptor expression-enhancing protein 2 is a protein that in humans is encoded by the REEP2 gene.
AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.
KIAA0196 is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.
Spatacsin is a protein that in humans is encoded by the SPG11 gene.
AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the AP4E1 gene.
AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.
Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.
Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.
Margaret Scott Robinson FRS FMedSci is a British molecular cell biologist, a professor and researcher in the Cambridge Institute for Medical Research, at the University of Cambridge.
Zinc finger, FYVE domain containing 26 is a protein that in humans is encoded by the ZFYVE26 gene.
Zinc finger, FYVE domain containing 27 is a protein that in humans is encoded by the ZFYVE27 gene.
Spastic paraplegia 15 (SPG15) is a form of hereditary spastic paraplegia that commonly becomes apparent during childhood or adolescence. The disease is caused by mutations within the ZFYVE26 gene - also known as the SPG15 gene - and is passed down in an autosomal recessive manner.
