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8799 PEX11B

8799

PEX11B

peroxisomal biogenesis factor 11 beta

protein-coding

Homo sapiens

基因描述

Type Description
Definition peroxisomal biogenesis factor 11 beta

研究结论

Date Results Publications
2020-04-04 10:35:00 Authors provide evidence that PXMP2 is not essential for H2O2 permeation across the peroxisomal membrane, neither in control cells nor in cells lacking PEX11B, a peroxisomal membrane-shaping protein whose yeast homologue facilitates the permeation of molecules up to 400Da. 31129117
2017-06-24 10:44:00 Next generation sequencing identified biallelic loss-of-function mutations in PEX11B as the underlying cause of disease in each case (PEX11B c.235C>T p.(Arg79Ter) homozygous; PEX11B c.136C>T p.(Arg46Ter) homozygous; PEX11B c.595C>T p.(Arg199Ter) heterozygous, PEX11B ex1-3 del heterozygous). 28129423
2013-07-06 11:24:00 Self-interaction of human Pex11beta during peroxisomal growth and division regulates its membrane deforming activity in conjunction with membrane lipids. 23308220
2012-11-24 11:01:00 Excluding mutations in all PEX genes previously implicated in peroxisome biogenesis disorders, it was found that the defect was caused by a homozygous non-sense mutation in the PEX11beta gene. 22581968
2012-11-24 11:01:00 A new study identifies the first patient with a mutation in PEX11beta.These new findings widen the spectrum of clinical and cellular phenotypes of peroxisome biogenesis disorders. 22581969

名称对应

Type IDs
Synonymous PEX11-BETA, PEX14B
Gene
UniProtKB-ID: PX11B_HUMAN, A0A024R4E7_HUMAN
UniprotKB: O96011, A0A024R4E7
UniParc: UPI00017A815E, UPI0000073D3A
EMBL: AL160282, AK023991, CR542047, BC011963, AB018080, AK301983, AF093670, CH471244
Ensembl: ENSG00000131779
KO: hsa:8799
Nucleutide sequences
EMBL-CDS: BAG51247.1, CAG46844.1, AAH11963.1, AAC78660.1, BAA34812.1, EAW71422.1, BAG63391.1, EAW71423.1
Gene_ORFName: hCG_37371
Ensembl_TRS: ENST00000369306, ENST00000537888
Protein sequencees
Ensembl_PRO: ENSP00000437510, ENSP00000358312
RefSeq: NP_003837.1, NP_001171724.1
Others
UniRef100: UniRef100_O96011
UniRef90: UniRef90_O96011
UniRef50: UniRef50_O96011
UniGene: Hs.714608
CCDS: CCDS72870.1, CCDS72871.1

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