| Type | Description |
|---|---|
| Definition | alkylglycerol monooxygenase |
| Date | Results | Publications |
|---|---|---|
| 2019-12-07 12:00:00 | Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. | 31555905 |
| 2017-09-16 11:46:00 | We identified homozygous and heterozygous mutations of the alkylglycerol monooxygenase (AGMO) gene (MIM 613738) as the likely cause of visceral leishmaniasis relapse in 3 families. | 28586473 |
| 2016-12-31 10:45:00 | An AGMO mutation was found in a Saudi family underlying primary microcephaly and intellectual disability. | 27000257 |
| 2012-05-26 11:30:00 | Among all of the acidic residues within the eight-histidine motif, only mutation of Glu137 to alanine led to an 18-fold increase in the Michaelis-Menten constant for tetrahydrobiopterin, suggesting a role in tetrahydrobiopterin interaction | 22220568 |
| 2010-09-15 22:05:00 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | 20613766 |
| Type | IDs |
|---|---|
| Synonymous | TMEM195 |
| Gene |
UniProtKB-ID:
ALKMO_HUMAN,
X5D773_HUMAN
UniprotKB:
Q6ZNB7,
X5D773
UniParc:
UPI0000050343
EMBL:
CH236948,
AK131284,
BC108676,
KJ534765
Ensembl:
ENSG00000187546
KO:
hsa:392636
|
| Nucleutide sequences |
EMBL-CDS:
BAD18458.1,
EAL24290.1,
AAI08677.1,
AHW56405.1
Ensembl_TRS:
ENST00000342526
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000341662
RefSeq:
XP_016867693.1,
NP_001004320.1,
XP_011513704.1,
XP_006715793.1,
XP_006715794.1
|
| Others |
UniRef100:
UniRef100_Q6ZNB7
UniRef90:
UniRef90_Q6ZNB7
UniRef50:
UniRef50_Q6ZNB7
UniGene:
Hs.670634
CCDS:
CCDS34604.1
|
| {{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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