NHS Gene (Nance-Horan Syndrome Protein)
Actin remodeling regulator in eye, brain, and tooth development
Gene Information Card
| Symbol | NHS |
|---|---|
| Full Name | Nance-Horan syndrome (actin remodeling regulator) |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.13 |
| NCBI Gene ID | 4810 ncbi.nlm.nih.gov/gene/4810 |
| Ensembl ID | ENSG00000188153 |
| UniProt ID | Q6T4R5 |
| OMIM ID | 300457 |
| HGNC ID | 7820 |
| Aliases | CTRCT40, NHS-A, NHS-B, SCML1-like |
Description
The NHS gene encodes the Nance-Horan syndrome protein, a component of the WAVE complex involved in actin cytoskeleton remodeling. It is essential for normal eye, tooth, and brain development. Mutations cause Nance-Horan syndrome (NHS), characterized by congenital cataracts, dental anomalies, and intellectual disability. The gene undergoes alternative splicing producing multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nance-Horan syndrome (NHS) | Loss-of-function mutations disrupt actin remodeling, leading to defective lens, tooth, and neuronal development | OMIM #302350; multiple NHS families with nonsense/frameshift variants |
| Congenital cataract (CTRCT40) | X-linked cataract associated with NHS mutations; impaired lens fiber cell actin dynamics | ClinVar; OMIM #300457 |
| X-linked intellectual disability | NHS mutations affecting brain-expressed isoforms disrupt synaptic actin regulation | Literature: PMID 19213030 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (lens) | 12.5 | High |
| Brain (cerebral cortex) | 8.2 | Medium |
| Tooth (dental pulp) | 7.1 | Medium |
| Testis | 5.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | High expression |
| SH-SY5Y (neuroblastoma) | 9.8 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1006C>T (p.Arg336*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1240_1241delAG (p.Ser414fs) | Frameshift | Rare | Frameshift leading to nonsense-mediated decay |
| c.2155C>T (p.Arg719Trp) | Missense | Rare | Impaired WAVE complex binding |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Majority of NHS mutations (nonsense, frameshift, splice-site) lead to loss of functional protein, causing Nance-Horan syndrome.
Gain of Function (GOF)
No evidence for gain-of-function mutations in NHS.
Dominant Negative (DN)
Not reported; NHS is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization (GO:0030036) | • lamellipodium assembly (GO:0030027) |
| • regulation of cell projection assembly (GO:0060491) | • protein binding (GO:0005515) |
| • WAVE complex (GO:0035898) |
Pathways
• WAVE complex-mediated actin nucleation (R-HSA-5663220)
• Regulation of actin dynamics for phagocytic cup formation (R-HSA-2029485)
Protein Summary
The NHS protein is a component of the WAVE regulatory complex (WRC), which activates the Arp2/3 complex to promote actin polymerization. It localizes to lamellipodia and is critical for cell migration, adhesion, and morphogenesis. Multiple isoforms (NHS-A, NHS-B) show tissue-specific expression. The protein contains a WHD (WAVE homology domain) and proline-rich regions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHS Knockout HEK293 Cell Line | EDJ-KQ5341 | Human | 4810 | Details Get a Quote |
| NHSL3 Knockout HEK293 Cell Line | EDJ-KQ13925 | Human | 57648 | Details Get a Quote |
| NHSL1 Knockout HEK293 Cell Line | EDJ-KQ14422 | Human | 57224 | Details Get a Quote |
| NHSL2 Knockout HEK293 Cell Line | EDJ-KQ14423 | Human | 340527 | Details Get a Quote |
| NHSL1 Knockout A-549 Cell Line | EDJ-KQ44627 | Human | 57224 | Details Get a Quote |
| NHSL1 Knockout HCT 116 Cell Line | EDJ-KQ44628 | Human | 57224 | Details Get a Quote |
| NHSL1 Knockout HeLa Cell Line | EDJ-KQ44629 | Human | 57224 | Details Get a Quote |
| NHS Knockout A-549 Cell Line | EDJ-KQ28441 | Human | 4810 | Details Get a Quote |
| NHS Knockout HCT 116 Cell Line | EDJ-KQ28442 | Human | 4810 | Details Get a Quote |
| NHS Knockout HeLa Cell Line | EDJ-KQ28443 | Human | 4810 | Details Get a Quote |
| NHSL3 Knockout A-549 Cell Line | EDJ-KQ43804 | Human | 57648 | Details Get a Quote |
| NHSL3 Knockout HCT 116 Cell Line | EDJ-KQ43805 | Human | 57648 | Details Get a Quote |
| NHSL3 Knockout HeLa Cell Line | EDJ-KQ43806 | Human | 57648 | Details Get a Quote |
| NHSL2 Knockout HeLa Cell Line | EDJ-KQ59680 | Human | 340527 | Details Get a Quote |
| NHSL2 Knockout A-549 Cell Line | EDJ-KQ68151 | Human | 340527 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
