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55670 PEX26

55670

PEX26

peroxisomal biogenesis factor 26

protein-coding

Homo sapiens

基因描述

Type Description
Definition peroxisomal biogenesis factor 26

研究结论

Date Results Publications
2020-08-01 14:37:00 There are no significant differences between PEX1-, PEX6-, and PEX26-associated phenotypes inclinical and genetic spectrum of Heimler syndrome. 31831025
2020-04-04 11:57:00 An autosomal recessive missense variant, c.153C>A (p.F51L) in PEX26 was identified in Ashkenazi Jewish individual with a milder form of Zellweger spectrum and hearing loss. Binding of Pex26-F51L to Pex1 and Pex6 is severely impaired and affects peroxisome assembly. Pex26 in the patient's fibroblasts is reduced to approximately 30% of control, suggesting that Pex26-F51L is unstable in cells. There are also other changes... 30446579
2019-09-14 12:27:00 Data support an alternative PEX14-dependent mechanism of peroxisomal membrane association for the splice variant, which lacks a transmembrane domain. Structure-function relationships of PEX26 isoforms explain an extended function in peroxisomal homeostasis and these findings may improve our understanding of the broad phenotype of PEX26-associated human disorders. 30366024
2016-10-01 10:18:00 In yeast, PEX26 follows the pathway that also ensures correct targeting of Pex15: PEX26 enters the endoplasmic reticulum (ER) in a GET-dependent and Pex19-independent manner. 26627908
2015-01-24 11:52:00 results suggested that peroxisome biogenesis requires Pex1p- and Pex6p-regulated dissociation of Pex14p from Pex26p 25016021

名称对应

Type IDs
Synonymous PBD7A, PBD7B, PEX26M1T, Pex26pM1T
Gene
UniProtKB-ID: PEX26_HUMAN, A0A024R100_HUMAN, A0A0S2Z5M7_HUMAN, Q7Z2D7_HUMAN
UniprotKB: Q7Z412, A0A024R100, A0A0S2Z5M7, Q7Z2D7
UniParc: UPI0000207ADC, UPI00001AE41B, UPI000000DBD1
EMBL: AC008079, AB103105, AB103104, AB103107, KU178710, AC016027, AB103106, BC016280, KU178709, BF930319, AK000065, AB089678, AB103110, CR456362, CH471193, AB103109, AK000702, BC047320, AB103108
Ensembl: ENSG00000215193
KO: hsa:55670
Nucleutide sequences
EMBL-CDS: AAH47320.1, CAG30248.1, BAC78807.1, BAC78805.1, BAA90920.1, BAC78804.1, BAC66616.1, BAC78806.1, AAH16280.1, BAC78808.1, BAA91329.1, EAW57782.1, EAW57784.1, EAW57783.1, ALQ34167.1, ALQ34168.1, BAC78802.1, BAC78803.1
Gene_ORFName: hCG_1817601
Ensembl_TRS: ENST00000399744, ENST00000610387, ENST00000329627, ENST00000428061
Protein sequencees
Ensembl_PRO: ENSP00000331106, ENSP00000382648, ENSP00000482091, ENSP00000412441
RefSeq: NP_001121121.1, NP_060399.1, NP_001186248.1
Others
UniRef100: UniRef100_Q7Z2D7, UniRef100_Q7Z412, UniRef100_Q7Z412-2
UniRef90: UniRef90_Q7Z2D7, UniRef90_Q7Z412, UniRef90_Q7Z412-2
UniRef50: UniRef50_Q7Z412, UniRef50_Q7Z2D7
UniGene: Hs.517400
CCDS: CCDS13750.1, CCDS56221.1

全选

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