| Type | Description |
|---|---|
| Definition | peroxisomal biogenesis factor 12 |
| Date | Results | Publications |
|---|---|---|
| 2010-01-21 00:00:00 | A single missense mutation was found in PEX12 in eight neonatal adrenoleukodystrophy, and infantile Refsum disease patients With Peroxisomal Mosaicism. | 15241794 |
| 2010-01-21 00:00:00 | the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX12 gene. | 19105186 |
| 2010-01-21 00:00:00 | Highly probable candidate gene for direct sequencing in the context of a peroxisomal biogenesis disorder with a mild clinical phenotype, mosaicism and minimally abnormal peroxisomal parameters in fibroblasts. | 17534573 |
| 2010-01-21 00:00:00 | examination of role in PEX5 binding of PTS1 | 12456682 |
| Type | IDs |
|---|---|
| Synonymous | PAF-3, PBD3A |
| Gene |
UniProtKB-ID:
PEX12_HUMAN
UniprotKB:
O00623
UniParc:
UPI0000131703
EMBL:
BC031085,
AB004546,
AK312635,
U91522,
CH471147,
U91521
Ensembl:
ENSG00000108733
KO:
hsa:5193
|
| Nucleutide sequences |
EMBL-CDS:
EAW80143.1,
AAC68812.1,
AAH31085.1,
BAG35519.1,
AAC68813.1,
BAA31559.1
Ensembl_TRS:
ENST00000225873,
ENST00000613219
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000482609,
ENSP00000225873
RefSeq:
NP_000277.1
|
| Others |
UniRef100:
UniRef100_O00623
UniRef90:
UniRef90_O00623
UniRef50:
UniRef50_O00623
UniGene:
Hs.591190
CCDS:
CCDS11296.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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