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23503 ZFYVE26

23503

ZFYVE26

zinc finger FYVE-type containing 26

protein-coding

Homo sapiens

基因描述

Type Description
Definition zinc finger FYVE-type containing 26

研究结论

Date Results Publications
2020-03-14 12:11:00 ZFYVE26 and SPG11 are differently involved in autophagy and endocytosis. 30081747
2019-03-16 10:49:00 Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of hereditary spastic paraplegia (HSP) , SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, respectively. 29726929
2017-12-16 10:25:00 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 26492578
2015-07-25 11:10:00 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. 25365221
2014-11-22 10:06:00 ZFYVE26 is a key determinant of autophagosome maturation 24284334

名称对应

Type IDs
Synonymous FYVE-CENT, SPG15
Gene
UniProtKB-ID: ZFY26_HUMAN
UniprotKB: Q68DK2
UniParc: UPI0000EE32DF, UPI0001D147A3, UPI0000EE32F7, UPI00001C1006, UPI0000EE32F9
EMBL: AL049779, AK304428, AB425197, AK128496, BC008927, AB002319, CR749365, BX538025, CH471061, BX648683, BC033235, AL121595, CR749276, BX537886
Ensembl: ENSG00000072121
KO: hsa:23503
Nucleutide sequences
EMBL-CDS: CAD97971.1, BAA20779.1, AAH33235.2, BAG65255.1, CAH10379.1, AAH08927.2, BAG11658.1, CAH18218.1, BAC87467.1, EAW80954.1, CAD97882.1, CAH18131.1
Ensembl_TRS: ENST00000347230
Protein sequencees
Ensembl_PRO: ENSP00000251119
RefSeq: XP_016876614.1, XP_011534911.1, XP_016876613.1, NP_056161.2, XP_016876617.1, XP_016876616.1, XP_016876615.1
Others
UniRef100: UniRef100_Q68DK2
UniRef90: UniRef90_Q68DK2
UniRef50: UniRef50_Q68DK2
UniGene: Hs.98041
CCDS: CCDS9788.1

全选

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