| Type | Description |
|---|---|
| Definition | peroxisomal biogenesis factor 6 |
| 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 |
| 2020-01-11 10:48:00 | This article reviews the abundant records of missense mutations described in Peroxisome biogenesis disorders patients with the aim to classify and rationalize them by mapping them onto a homology model of the human Pex1/Pex6 complex. [review] | 31374812 |
| 2019-04-13 12:13:00 | Mutation in PAX6 gene is associated with Ophthalmic manifestations of Heimler syndrome. | 29676688 |
| 2019-02-09 12:40:00 | This study provides evidence suggesting that monoubiquitinated PEX5 interacts directly with both PEX1 and PEX6 through its ubiquitin moiety and that the PEX5 polypeptide chain is globally unfolded during the ATP-dependent extraction event. | 29884772 |
| 2018-02-03 11:51:00 | A novel homozygous PEX6 p.Ala94Pro mutation. | 29047053 |
| Type | IDs |
|---|---|
| Synonymous | HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1 |
| Gene |
UniProtKB-ID:
PEX6_HUMAN,
A0A024RD09_HUMAN
UniprotKB:
Q13608,
A0A024RD09
UniParc:
UPI000006FB81,
UPI0000072806,
UPI00001316EC
EMBL:
AB051076,
AF108096,
AB051077,
AK314237,
CH471081,
AF108098,
AB051078,
BC048331,
U56602,
AF108097,
AF108095,
D83703,
AL158815
Ensembl:
ENSG00000124587
KO:
hsa:5190
|
| Nucleutide sequences |
EMBL-CDS:
BAG36906.1,
BAB83046.1,
AAH48331.1,
BAA12069.1,
AAF62564.1,
BAB83047.1,
EAX04128.1,
AAC50655.1,
BAB83048.1,
EAX04125.1,
EAX04129.1,
EAX04127.1
Gene_ORFName:
hCG_17647
Ensembl_TRS:
ENST00000304611,
ENST00000244546
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000303511,
ENSP00000244546
RefSeq:
NP_001303242.1,
XP_011512963.1,
NP_000278.3
|
| Others |
UniRef100:
UniRef100_Q13608
UniRef90:
UniRef90_Q13608
UniRef50:
UniRef50_Q13608
UniGene:
Hs.656425
CCDS:
CCDS4877.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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