| Type | Description |
|---|---|
| Definition | CHM Rab escort protein |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:12:00 | Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses. | 32487042 |
| 2021-03-27 14:42:00 | Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia. | 32364220 |
| 2021-02-06 13:56:00 | CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA. | 30308560 |
| 2020-12-26 13:15:00 | Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families. | 32985515 |
| 2020-04-18 12:37:00 | The molecular and clinical findings in the current case provide strong evidence that c.1359C>T (p.(Gln451Phefs*3)) in the CHM gene should be considered a disease-causing variant in Choroideremia | 32097478 |
| Type | IDs |
|---|---|
| Synonymous | DXS540, GGTA, HSD-32, REP-1, TCD |
| Gene |
UniProtKB-ID:
RAE1_HUMAN,
A8K545_HUMAN,
B4DRL9_HUMAN
UniprotKB:
P24386,
A8K545,
B4DRL9
UniParc:
UPI0000049C8C,
UPI00015DA71B,
UPI00017A7CC8,
UPI00001415DF
EMBL:
AL022401,
S37416,
S37423,
AL138748,
AK291160,
BC130496,
AK299323,
M83773,
S37417,
X57637,
X78121,
S37422,
AL009175,
BC130494,
AL035451
Ensembl:
ENSG00000188419
KO:
hsa:1121
|
| Nucleutide sequences |
EMBL-CDS:
AAI30495.1,
AAD13814.1,
AAA61032.1,
CAA55011.1,
AAI30497.1,
CAA40855.1,
BAF83849.1,
BAG61331.1
Ensembl_TRS:
ENST00000615443,
ENST00000357749
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000350386,
ENSP00000484306
RefSeq:
XP_016884735.1,
NP_001349446.1,
NP_001138886.1,
XP_016884731.1,
NP_001307888.1,
NP_001349448.1,
NP_001349447.1,
XP_024308099.1,
NP_000381.1
|
| Others |
UniRef100:
UniRef100_A8K545,
UniRef100_P24386
UniRef90:
UniRef90_P24386
UniRef50:
UniRef50_P24386
UniGene:
Hs.496449
CCDS:
CCDS48139.1,
CCDS14454.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
National Eye Institute |
4 |
| 2 |
National Heart and Lung Institute |
3 |
| 3 |
Max Planck Institute of Molecular Cell Biology and Genetics |
2 |
| 4 |
University of Helsinki |
2 |
| 5 |
Max-Planck-Institute for Molecular Physiology |
2 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
F P Cremers |
7 |
| 2 |
Ian M MacDonald |
7 |
| 3 |
M C Seabra |
4 |
| 4 |
J A van den Hurk |
4 |
| 5 |
Robert E MacLaren |
4 |