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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NHS (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4810
Official gene symbolNHS
Full nameNance-Horan syndrome (congenital cataracts and dental anomalies)
Aliases,DKFZp781F2016,DKFZp781L0254,FLJ22511,SCML1,
Gene summaryThis gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq]
LocationChromosome: X   Locus: Xp22.13
Gene position17393543 - 17754114  Map Viewer
Gene orientationplus
Gene size360572 bp
Gene sequence
OMIM ID300457