NHS (gene)

Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS gene.[5]

NHS
Identifiers
AliasesNHS, CTRCT40, CXN, SCML1, NHS actin remodeling regulator
External IDsOMIM: 300457 MGI: 2684894 HomoloGene: 18866 GeneCards: NHS
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp22.2-p22.13Start17,375,420 bp[1]
End17,735,994 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

4810

195727

Ensembl

ENSG00000188158

ENSMUSG00000059493

UniProt

Q6T4R5

n/a

RefSeq (mRNA)

NM_001136024
NM_001291867
NM_001291868
NM_198270

NM_001081052
NM_001290526

RefSeq (protein)

NP_001129496
NP_001278796
NP_001278797
NP_938011

n/a

Location (UCSC)Chr X: 17.38 – 17.74 MbChr X: 161.83 – 162.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000188158 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000059493 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)".

Further reading

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