| Type | Description |
|---|---|
| Definition | phosphatidylinositol glycan anchor biosynthesis class O |
| Date | Results | Publications |
|---|---|---|
| 2018-04-14 11:49:00 | PIGO deficiency shows variable phenotypes from infantile lethality to mild learning difficulties | 28337824 |
| 2017-09-16 11:04:00 | Disease associated PIGO missense mutations resulted in decreased activity in vitro. | 28327575 |
| 2014-04-12 11:27:00 | Novel PIGO mutations expand the clinical spectrum of PIGO abnormalities to include epileptic encephalopathy with mild elevation of alkaline phosphatase (ALP). | 24417746 |
| 2012-09-22 10:22:00 | Our data identify PIGO as the second gene associated with HPMRS and suggest that a deficiency in GPI-anchor synthesis is the underlying molecular pathomechanism of HPMRS. | 22683086 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | 20628086 |
| Type | IDs |
|---|---|
| Synonymous | HPMRS2 |
| Gene |
UniProtKB-ID:
PIGO_HUMAN
UniprotKB:
Q8TEQ8
UniParc:
UPI0000048EF6,
UPI000013E47F
EMBL:
BC029271,
AK090433,
BC036916,
BC001030,
AL353795,
AY358472,
BC013987,
AL833956,
AK074064,
AB083625,
CH471071,
AC004472,
BC065282
Ensembl:
ENSG00000165282
KO:
hsa:84720
|
| Nucleutide sequences |
EMBL-CDS:
AAH01030.1,
AAH36916.1,
AAH29271.1,
BAB89338.1,
CAD38806.1,
BAC03414.1,
BAB84890.1,
EAW58397.1,
AAQ88836.1,
AAC07985.1,
AAH13987.1,
AAH65282.1
Gene_ORFName:
UNQ632/PRO1249
Ensembl_TRS:
ENST00000378617,
ENST00000298004,
ENST00000361778
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000298004,
ENSP00000354678,
ENSP00000367880
RefSeq:
NP_116023.2,
XP_005251676.1,
NP_001188413.1,
XP_016870711.1,
NP_690577.2,
XP_016870713.1,
XP_016870712.1
|
| Others |
UniRef100:
UniRef100_Q8TEQ8
UniRef90:
UniRef90_Q8TEQ8
UniRef50:
UniRef50_Q8TEQ8
UniGene:
Hs.522099,
Hs.735712
CCDS:
CCDS6576.1,
CCDS6575.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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