NHS (gene)

NHS (gene)
Nance-Horan syndrome (congenital cataracts and dental anomalies)
Identifiers
Symbols NHS; CXN; DKFZp781F2016; DKFZp781L0254; FLJ22511; SCML1
External IDs OMIM300457 MGI2684894 HomoloGene18866 GeneCards: NHS Gene
Orthologs
Species Human Mouse
Entrez 4810 195727
Ensembl ENSG00000188158 ENSMUSG00000059493
UniProt Q6T4R5 n/a
RefSeq (mRNA) NM_001136024.2 NM_001081052.1
RefSeq (protein) NP_001129496.1 NP_001074521.1
Location (UCSC) Chr X:
17.39 – 17.75 Mb
Chr X:
158.27 – 158.6 Mb
PubMed search [1] [2]

Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS gene.[1]

This 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. An alternative splice variant has been described, but its full-length nature has not been determined.[1]

References

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