Type | Description |
---|---|
Definition | peroxisomal biogenesis factor 11 beta |
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 |
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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Refseq |
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