Recombinant Human Zinc finger FYVE domain-containing protein 26 (ZFYVE26), partial

1. Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease PMID: 26492578
2. spastizin and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration. PMID: 25365221
3. ZFYVE26 is a key determinant of autophagosome maturation PMID: 24284334
4. spg15 should be search for in the case of juvenile levodopa reponsive parkinsonism PMID: 24366652
5. We propose AP-5, SPG15, SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold. PMID: 23825025
6. spastizin interacts with the autophagy related Beclin 1-UVRAG-Rubicon multiprotein complex and is required for autophagosome maturation. PMID: 24030950
7. SPG15 was strongly expressed in cortical and spinal motor neurons and in embryos. It partially co-localized with multiple organelles, particularly with protein-trafficking vesicles, endoplasmic reticulum, microtubules and the mitochondria surface. PMID: 21545838
8. Findings suggest a positive feedback loop for recruitment of FYVE-CENT and Beclin 1 to the intercellular bridge during cytokinesis, and reveal a novel potential tumor suppressor mechanism for Beclin 1. PMID: 21455500
9. PtdIns(3)P production is essential for proper cytokinesis. PtdIns(3)P-binding centrosomal protein FYVE-CENT and TTC19 control cytokinesis through their translocation from the centrosome to the midbody mediated by the kinesin protein KIF13A. PMID: 20208530
10. phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with hereditary spastic paraplegia and significantly reduces the SPG15 locus PMID: 17661097
11. Autosomal recessive HSP-TCC is a frequent subtype of complicated HSP in Tunisia and is clinically and genetically heterogeneous. SPG11 and SPG15 are the major loci for this entity. PMID: 18332254
12. Refinement of SPG15 to a 2.64 Mb genetic interval on chromosome 14q23.3-q24.2 and the identification of ZFYVE26 was reported in families with complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. PMID: 18394578
13. Of patients with hereditary spastic paraplegia-thin corpus callosum, the largest analyzed so far, SPG15 was the second most frequent form (11.5%) after SPG11. PMID: 19805727
14. phenotype and mutation frequency compared with SPG11 in complicated hereditary spastic paraplegia PMID: 19917823

Show More

Hide All

HGNC: 20761

OMIM: 270700

KEGG: hsa:23503

STRING: 9606.ENSP00000251119

UniGene: Hs.98041