NHS - NHS actin remodeling regulator Gene

Also Known as CXN; SCML1; CTRCT40

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4810

About NHS

Cytogenetic location: Xp22.2-p22.13 Genomic coordinates (GRCh38): X:17,375,200-17,735,994 (from NCBI)

This gene has 9 transcripts (splice variants), 273 orthologues, 3 paralogues and is associated with 6 phenotypes. Broad expression in endometrium (RPKM 2.8), kidney (RPKM 2.8) and 22 other tissues.

Summary

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

NHS Products (4)

mRNA Protein Name
NM_001136024.4 NP_001129496.1 actin remodeling regulator NHS isoform 2
NM_001291867.2 NP_001278796.1 actin remodeling regulator NHS isoform 3
NM_001291868.2 NP_001278797.1 actin remodeling regulator NHS isoform 4
NM_198270.4 NP_938011.1 actin remodeling regulator NHS isoform 1

NHS Protein Structure

NHS

NHS: NHS-like (418 - 1053)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1630 a.a.
Protein Preferred Names Protein Names

actin remodeling regulator NHS

Nance-Horan syndrome protein

  • Nance-Horan syndrome (congenital cataracts and dental anomalies)

Related Diseases

Diseases Alias
Nance-Horan Syndrome
  • NHS

  • Cataract-Dental Syndrome

  • Cataract, X-Linked, With Hutchinsonian Teeth

  • Mesiodens-Cataract Syndrome

  • Cataract X-Linked With Hutchinsonian Teeth

  • Cataract Dental Syndrome

  • Mesiodens Cataract Syndrome

Cataract 40
  • CTRCT40

  • Cataract 40 With Or Without Microcornea

  • Cct

  • Cataract, Congenital, X-Linked

  • Cataract 40, X-Linked

  • Cataract, Congenital, With Microcornea Or Slight Microphthalmia

  • Cxn

  • Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes

  • Cataract 40 X-Linked

  • Cataract Congenital X-Linked

  • Cataract, Total Congenital

  • Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes

  • Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes

  • X-Linked Congenital Cataract

  • Cataract, Type 40

Syndromic X-Linked Intellectual Disability
  • X-Linked Syndromic Intellectual Disability

Early-Onset Nuclear Cataract
Colobomatous Microphthalmia
  • Anophthalmia-Microphthalmia Syndrome

  • Mac

  • Microphthalmia With Colobomatous Cyst

  • Microphthalmia-Anophthalmia-Coloboma Syndrome

  • Microphthalmia-Anophthalmia-Coloboma

  • Microphthalmia And Mental Deficiency

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Cataract 44
  • CTRCT44

  • Total Early-Onset Cataract

  • Cataract 44 And Hypotrichosis

  • Cataract And Hypotrichosis

  • Cataract, Type 44

Epidermolysis Bullosa Simplex 5a, Ogna Type
  • Epidermolysis Bullosa Simplex, Ogna Type

  • EBS5A

  • Ebsog

  • Epidermolysis Bullosa Simplex Ogna Type

  • Ebs-Og

  • Ebs-O

  • Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement

  • Plec-Related Intermediate Ebs Without Extracutaneous Involvement

  • Ebs1

  • Ebso

  • Epidermolysis Bullosa Simplex 1

  • O-Ebs

  • Simplex Epidermolysis Bullosa_ogna Type

Cataract 28
  • CTRCT28

  • Cataract, Age-Related Cortical, 1

  • Arcc1

  • Cataract 28, Age-Related Cortical, Susceptibility To

  • Cataract 28, Age-Related Cortical

  • Age-Related Cortical Cataract 1

Epidermolysis Bullosa, Junctional 1b, Severe
  • Epidermolysis Bullosa, Junctional, Herlitz Type

  • Epidermolysis Bullosa Letalis

  • JEB1B

  • Epidermolysis Bullosa Junctionalis, Herlitz Type

  • Jeb-Herlitz Type

  • Herlitz-Pearson-Type Epidermolysis Bullosa

  • Junctional Epidermolysis Bullosa Herlitz Type

  • Jeb-H

  • Junctional Epidermolysis Bullosa Generalisata Gravis

  • Junctional Epidermolysis Bullosa, Herlitz-Pearson Type

  • Epidermolysis Bullosa, Junctional, Generalized Severe

  • Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type

  • Herlitz Type Epidermolysis Bullosa Junctionalis

  • Severe Generalized Junctional Epidermolysis Bullosa

  • Junctional Epidermolysis Bullosa, Herlitz Type

  • Severe Generalized Jeb

  • Epidermolysis Letalis

  • Junctional Epidermolysis Bullosa Gravis

  • Junctional Epidermolysis Bullosa Herlitz-Pearson Type

  • Herlitz Disease

Hypotrichosis 1
  • HYPT1

  • Hhs

  • Hts

  • Hypotrichosis Simplex

  • Hypotrichosis Simplex, Generalized, Hereditary

  • Hereditary Generalized Hypotrichosis Simplex

  • Generalized Hypothricosis Simplex

  • Hypotrichosis Simplex Hereditary

  • Hypotrichosis, Type 1

Recessive Dystrophic Epidermolysis Bullosa
  • Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

  • Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

  • Rdeb, Hallopeau-Siemens Type

  • Severe Generalized Rdeb

  • Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

  • Rdeb Generalisata Gravis

  • Rdeb, Severe Generalized

  • Rdeb-Sev Gen

  • Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

  • Hallopeau-Siemens Disease

Epidermolysis Bullosa Simplex 1a, Generalized Severe
  • Epidermolysis Bullosa Simplex, Dowling-Meara Type

  • Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

  • EBS1A

  • Ebsdm

  • Epidermolysis Bullosa Simplex Dowling-Meara Type

  • Epidermolysis Bullosa Simplex, Herpetiformis

  • Ebs-Dm

  • Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

  • Ebs-Gen Sev

  • Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

  • Generalized Severe Epidermolysis Bullosa Simplex

  • Dowling-Meara Type Epidermolysis Bullosa Simplex

  • Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

  • Autosomal Dominant Generalized Ebs, Severe Form

  • Epidermolysis Bullosa Simplex Herpetiformis

  • Dm-Ebs

  • Epidermolysis Bullosa Simplex, Generalized Severe

  • Epidermolysis Bullosa Herpetiformis, Dowling-Meara

  • Epidermolysis Bullosa Herpetiformis Dowling-Meara

Epidermolysis Bullosa Dystrophica
  • Dystrophic Epidermolysis Bullosa

  • Deb

  • Dermolytic Epidermolysis Bullosa

  • Epidermolysis Bullosa, Dermolytic

  • Epidermolysis Bullosa, Dystrophic

  • Epidermolysis Bullosa Dystrophic

  • Dystrophic Eb - [Epidermolysis Bullosa]

Ophthalmia Neonatorum
  • Gonococcal Conjunctivitis

  • Gonococcal Ophthalmia Neonatorum

  • Neonatal Conjunctivitis

Junctional Epidermolysis Bullosa
  • Epidermolysis Bullosa, Junctional

  • Jeb

  • Epidermolysis Bullosa Atrophicans

  • Congenital Junctional Epidermolysis Bullosa

  • Epidermolysis Bullosa Junctional

  • Junctional Eb - [Epidermolysis Bullosa]

  • Jeb - [Junctional Epidermolysis Bullosa]

  • Lucidolytic Epidermolysis Bullosa

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus NHS MGD MGI:2684894
Macaca mulatta NHS VGNC VGNC:75348
Felis catus NHS VGNC VGNC:68494
Bos taurus NHS VGNC VGNC:32071
Canis familiaris NHS VGNC VGNC:43804
Rattus norvegicus NHS RGD RGD:1561818
Others NHS NCBI