| Type | Description |
|---|---|
| Definition | rogdi atypical leucine zipper |
| Date | Results | Publications |
|---|---|---|
| 2019-01-12 10:08:00 | Study provides structural insights into how certain mutations in Rogdi affect its structure and cause Kohlschutter-Tonz syndrome, which has important implications for the development of pharmaceutical agents against this debilitating neurological disease. | 28638151 |
| 2013-07-27 11:21:00 | We identify novel compound heterozygous ROGDI mutations in five typical Kohlschutter-Tonz syndrome families. Other families were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease. | 23086778 |
| 2012-06-02 11:34:00 | The finding that ROGDI mutations cause Kohlschutter-Tonz Syndrome indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis. | 22424600 |
| 2012-06-02 11:34:00 | Homozygosity mapping localized the gene linked to Kohlschutter-Tonz syndrome to a 586,513 bp region (with a LOD score of 6.4) in chromosomal region 16p13.3. The nonsense mutation was homozygous in all affected individuals. | 22482807 |
| Type | IDs |
|---|---|
| Synonymous | KTZS |
| Gene |
UniProtKB-ID:
ROGDI_HUMAN
UniprotKB:
Q9GZN7
UniParc:
UPI0000037B8E
EMBL:
CR457355,
CR533547,
AK026039,
AL136675,
BC012901,
CH471112
Ensembl:
ENSG00000067836
KO:
hsa:79641
|
| Nucleutide sequences |
EMBL-CDS:
BAB15331.1,
CAB66610.1,
CAG38578.1,
AAH12901.1,
EAW85260.1,
CAG33636.1
Ensembl_TRS:
ENST00000322048
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000322832
RefSeq:
XP_006721010.1,
XP_006721011.1,
NP_078865.1
|
| Others |
UniRef100:
UniRef100_Q9GZN7
UniRef90:
UniRef90_Q9GZN7
UniRef50:
UniRef50_Q9GZN7
UniGene:
Hs.459795
CCDS:
CCDS10523.1
|
| {{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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