| Type | Description |
|---|---|
| Definition | arachidonate 12-lipoxygenase, 12R type |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 11:09:00 | A possible contribution of the SPNS2 variation to POI was not strictly ruled out, but various data presented in the text including reported association of variations in related gene ALOX12 with menopause-age and role of ALOX12B in atretic bovine follicle formation argue in favor of ALOX12B. It is, therefore, concluded that the mutation in ALOX12B is the likely cause of POI in the pedigree. | 32253496 |
| 2017-11-25 14:08:00 | The rare homozygous ALOX12B mutation found in Patient 5 causes a change in a conserved residue; Leu315 into a proline in the catalytic domain of 12R-LOX. | 28236338 |
| 2017-04-22 10:20:00 | report adds information on the clinical picture of autosomal recessive congenital ichthyosis caused by ALOX12B mutations | 26575587 |
| 2014-07-26 12:14:00 | We found that the contribution of the ALOX12B gene to the pathogenesis of Autosomal Recessive Congenital Ichthyosis to be as important as that of TGM1 in families of Arab Muslim origin | 23621129 |
| 2014-04-19 11:52:00 | Loss-of-function mutations in the LOX genes ALOX12B and ALOXE3 have been found to represent the second most common cause of autosomal recessive congenital ichthyosis. [review] | 23954555 |
| Type | IDs |
|---|---|
| Synonymous | 12R-LOX, ARCI2 |
| Gene |
UniProtKB-ID:
LX12B_HUMAN
UniprotKB:
O75342
UniParc:
UPI000000D996
EMBL:
AF059250,
BC041058,
AF038461,
AJ305026,
AJ305027
Ensembl:
ENSG00000179477
KO:
hsa:242
|
| Nucleutide sequences |
EMBL-CDS:
AAH41058.1,
AAC39770.1,
AAC79680.1,
CAC34520.1
Ensembl_TRS:
ENST00000647874
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497784
RefSeq:
NP_001130.1
|
| Others |
UniRef100:
UniRef100_O75342
UniRef90:
UniRef90_O75342
UniRef50:
UniRef50_O75342
UniGene:
Hs.136574
CCDS:
CCDS11129.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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