| Type | Description |
|---|---|
| Definition | cone-rod homeobox |
| Date | Results | Publications |
|---|---|---|
| 2020-12-12 13:22:00 | Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. | 32533067 |
| 2020-08-12 12:23:00 | Heterozygous CRX deletion is associated with recurrent arcuate retinopathy in familial cone-rod dystrophy. | 31743059 |
| 2020-04-04 11:52:00 | Incomplete penetrance of CRX gene for autosomal dominant form is associated cone-rod dystrophy. | 31215831 |
| 2020-03-21 11:44:00 | two known retinal dystrophy genes, PRPH2 and CRX, achieved study-wide significance (p < 1.33 x 10-6) under a dominant disease model | 30926958 |
| 2020-02-22 12:07:00 | most heterozygous pathogenic variants in CRX are associated with autosomal dominant retinal degeneration, a homozygous c.268C>T (p.Arg90Trp) substitution and homozygous complete deletion of CRX have been reported to cause Leber congenital amaurosis. In conclusion, many rare missense variants and some truncating variants in CRX are likely benign. | 31626798 |
| Type | IDs |
|---|---|
| Synonymous | CORD2, CRD, LCA7, OTX3 |
| Gene |
UniProtKB-ID:
CRX_HUMAN
UniprotKB:
O43186
UniParc:
UPI00001284E0
EMBL:
DQ426868,
AF024711,
BC016664,
AC008745,
BC053672,
BT007364
Ensembl:
ENSG00000105392
KO:
hsa:1406
|
| Nucleutide sequences |
EMBL-CDS:
AAB88418.1,
ABD90533.1,
AAP36028.1
Ensembl_TRS:
ENST00000539067,
ENST00000221996
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000445565,
ENSP00000221996
RefSeq:
NP_000545.1
|
| Others |
UniRef100:
UniRef100_O43186
UniRef90:
UniRef90_O43186
UniRef50:
UniRef50_O43186
UniGene:
Hs.617342,
Hs.633434,
Hs.639114
CCDS:
CCDS12706.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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