Orphanet: NHS actin remodeling regulator

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NHS - NHS actin remodeling regulator

Synonym(s) :
Previous symbols and names : Nance-Horan syndrome (congenital cataracts and dental anomalies)
Type : gene with protein product
Chromosomal location : Xp22.2-p22.13
OMIM: 300457
HGNC: 7820
UniProtKB: Q6T4R5
Genatlas: NHS
Ensembl: ENSG00000188158
IUPHAR-DB: -
Reactome: -
LOVD: NHS

Diseases list

Disease-causing germline mutation(s) in Early-onset nuclear cataract ORPHA:98991
Disease-causing germline mutation(s) in Nance-Horan syndrome ORPHA:627
Candidate gene tested in Total early-onset cataract ORPHA:98994

: Assessed

Additional information

Health care resources for this gene

Diagnostic tests (10)

Research activities on this gene

Specialised Social Services

Eurordis directory

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