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Description for Protein NHS

Nance-Horan syndrome (congenital cataracts and dental anomalies)
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
NHS gene; Nance Horan syndrome protein
Approved Symbol:
NHS
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 53
Human (de-) phosphorylation sites: 53; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Nance-Horan syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02351 Entrez Gene ID: 4810 OMIM ID: 300457 Swissprot Accession: Q6T4R5;