Aliases for NHS Gene
External Ids for NHS Gene
Previous GeneCards Identifiers for NHS Gene
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]
GeneCards Summary for NHS Gene
NHS (Nance-Horan Syndrome (Congenital Cataracts And Dental Anomalies)) is a Protein Coding gene. Diseases associated with NHS include nance-horan syndrome and cataract 40, x-linked. An important paralog of this gene is NHSL1.
UniProtKB/Swiss-Prot for NHS Gene
May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development.