| Type | Description |
|---|---|
| Definition | WD repeat domain 73 |
| Date | Results | Publications |
|---|---|---|
| 2020-01-25 14:11:00 | A new homozygous missense mutation was identified in two siblings with Galloway-Mowat syndrome. | 30315938 |
| 2018-07-21 11:28:00 | We expanded the clinical phenotype of GMS with WDR73 gene defect to include retinal dysfunction with missense mutation and developmental dysplasia of the hip. | 29929488 |
| 2017-02-18 10:18:00 | WDR73 as a candidate gene of severe intellectual disability and cerebellar hypoplasia. | 27983999 |
| 2016-07-30 10:29:00 | We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration. | 26123727 |
| 2016-02-27 11:01:00 | Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome | 25873735 |
| Type | IDs |
|---|---|
| Synonymous | GAMOS, GAMOS1, HSPC264 |
| Gene |
UniProtKB-ID:
WDR73_HUMAN,
Q5RKY8_HUMAN,
Q6PJL8_HUMAN
UniprotKB:
Q6P4I2,
Q5RKY8,
Q6PJL8
UniParc:
UPI0000470C77,
UPI000004A084,
UPI0000231BC3
EMBL:
AK027794,
BC063392,
BC014115,
BC050648,
AF161382
Ensembl:
ENSG00000177082
KO:
hsa:84942
|
| Nucleutide sequences |
EMBL-CDS:
AAH63392.1,
AAF28942.1,
BAB55373.1,
AAH50648.1,
AAH14115.1
Gene_ORFName:
HSPC264
Ensembl_TRS:
ENST00000434634
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000387982
RefSeq:
NP_116245.2
|
| Others |
UniRef100:
UniRef100_Q6P4I2,
UniRef100_Q5RKY8
UniRef90:
UniRef90_Q6P4I2
UniRef50:
UniRef50_Q6P4I2
UniGene:
Hs.745027
CCDS:
CCDS45339.1
|
| {{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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