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Merck

NHS

Nance-Horan syndrome (congenital cataracts and dental anomalies)

Synonyms:
CTRCT40, CXN, SCML1
Species:
Human NHS (4810), Mouse Nhs (195727), Rat Nhs (317494), chicken NHS (418616), Zebrafish nhs (559636), sheep NHS (101107499), cow NHS (539895), Horse NHS (100051387), domestic cat NHS (101098928), dog NHS (491757)
UniProtKB ID:
Q6T4R5, B7ZVX8, E2DH69, Q5J7Q0, Q5J7Q1, Q68DR5
Gene ID:
  • Human(4810) 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, Oct 2008]
  • Mouse(195727) Nance-Horan syndrome (human)
  • Rat(317494) Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • chicken(418616) Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • Zebrafish(559636) Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • sheep(101107499) Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • cow(539895) Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • Horse(100051387) Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • domestic cat(101098928) Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • dog(491757) Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • domestic guinea pig(100733205) Nance-Horan syndrome (congenital cataracts and dental anomalies)

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