Gene: NHS

Alternate names for this Gene: CTRCT40|CXN|SCML1

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2-p22.13

Description of this Gene: NHS actin remodeling regulator

Type of Gene: protein-coding

rs111534978 in NHS gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs1556039406 in NHS gene and Dysmorphic features PMID 19414485 2009 X-linked cataract and Nance-Horan syndrome are allelic disorders.

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

PMID 16736028 2006 New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

PMID 21559051 2011 The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

PMID 11836358 2002 A locus for isolated cataract on human Xp.

PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

PMID 22229851 2012 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

rs1556038028 in NHS gene and Multiple congenital anomalies PMID 19414485 2009 X-linked cataract and Nance-Horan syndrome are allelic disorders.

PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

PMID 22229851 2012 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

PMID 16736028 2006 New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

PMID 11836358 2002 A locus for isolated cataract on human Xp.

PMID 21559051 2011 The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

rs132630322 in NHS gene and Nance-Horan syndrome PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

PMID 18949062 2008 Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

rs5955543 in NHS gene and Nephroblastoma PMID 22544364 2012 A genome-wide association study identifies susceptibility loci for Wilms tumor.

rs1556039406 in NHS gene and Overgrowth PMID 21559051 2011 The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

PMID 16736028 2006 New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

PMID 22229851 2012 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

PMID 11836358 2002 A locus for isolated cataract on human Xp.

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

PMID 19414485 2009 X-linked cataract and Nance-Horan syndrome are allelic disorders.

PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.