| Type | Description |
|---|---|
| Definition | NHS actin remodeling regulator |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 10:39:00 | Deleterious NHS mutations are associated with Nance Horan syndrome. | 31755796 |
| 2019-08-24 12:35:00 | Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations. | 30642278 |
| 2018-12-22 11:21:00 | A novel small deletion in the NHS gene is associated with Nance-Horan syndrome in a Chinese pedigree. | 29402928 |
| 2018-06-02 11:47:00 | Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19).The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with Nance-Horan syndromesyndrome and developmental delay. | 28464487 |
| 2018-03-31 12:02:00 | This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling. | 28922055 |
| Type | IDs |
|---|---|
| Synonymous | CTRCT40, CXN, SCML1 |
| Gene |
UniProtKB-ID:
NHS_HUMAN
UniprotKB:
Q6T4R5
UniParc:
UPI00001DFBF3,
UPI000189A9A8,
UPI00004A06AB,
UPI00004A06AC
EMBL:
AL845433,
Z93242,
AY456993,
GQ988776,
AY456992,
CR749300,
BC171763,
AY436752,
BC136415
Ensembl:
ENSG00000188158
KO:
hsa:4810
|
| Nucleutide sequences |
EMBL-CDS:
AAI71763.1,
AAS13456.1,
AAS13455.1,
AAR03104.1,
AAI36416.1,
CAH18155.1,
ADN85614.1
Ensembl_TRS:
ENST00000398097,
ENST00000380060
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000369400,
ENSP00000381170
RefSeq:
NP_001129496.1,
NP_001278796.1,
NP_001278797.1,
XP_011543830.1,
NP_938011.1
|
| Others |
UniRef100:
UniRef100_Q6T4R5
UniRef90:
UniRef90_Q6T4R5
UniRef50:
UniRef50_Q6T4R5
UniGene:
Hs.201623
CCDS:
CCDS14181.1,
CCDS48087.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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