| Type | Description |
|---|---|
| Definition | myocilin |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:19:00 | Cross-talk between MYOC p. Y437H mutation and TGF-beta2 in the pathology of glaucoma. | 32410836 |
| 2020-10-24 14:01:00 | Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients. | 30816137 |
| 2020-03-21 10:03:00 | A novel MYOC mutation (c.1309T>C, p.Y437H) in a Chinese family with POAG was identified which was associated with a phenotype characterised by severe visual impairment, frequent surgical intervention requirement and relatively high penetrance. | 30612094 |
| 2020-02-22 12:37:00 | MYOC was discovered to be associated with glaucoma via genetic studies of pedigrees with juvenile-onset primary open-angle glaucoma (JOAG). The patients with JOAG in these studies were found to harbor a set of MYOC mutations. | 30816940 |
| 2020-01-18 11:17:00 | Phenotypic differences observed in mouse and human studies of mutant myocilin could be a function of aggregation kinetics rates, which would alter the lifetime of putatively toxic protofibrillar intermediates. | 30802039 |
| Type | IDs |
|---|---|
| Synonymous | GLC1A, GPOA, JOAG, JOAG1, TIGR |
| Gene |
UniProtKB-ID:
MYOC_HUMAN,
A0A0S2Z421_HUMAN
UniprotKB:
Q99972,
A0A0S2Z421
UniParc:
UPI00000012D6
EMBL:
U85257,
AB006688,
Z97177,
AF049793,
AF001620,
KU178210,
Z97174,
AF049792,
Z97171,
BC029261,
Z98750,
AK315443,
CH471067,
AF049791,
D88214
Ensembl:
ENSG00000034971
KO:
hsa:4653
|
| Nucleutide sequences |
EMBL-CDS:
AAC14264.1,
AAC51725.1,
BAA24532.1,
EAW90903.1,
CAB09899.1,
BAA23531.1,
BAG37831.1,
AAH29261.1,
AAC52051.1,
ALQ33668.1
Ensembl_TRS:
ENST00000037502
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000037502
RefSeq:
NP_000252.1
|
| Others |
UniRef100:
UniRef100_Q99972
UniRef90:
UniRef90_Q99972
UniRef50:
UniRef50_Q99972
UniGene:
Hs.436037
CCDS:
CCDS1297.1
|
| {{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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