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- Table of Contents
Facts about Nance-Horan syndrome protein.
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Human | |
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Gene Name: | NHS |
Uniprot: | Q6T4R5 |
Entrez: | 4810 |
Belongs to: |
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NHS family |
Congenital cataracts and dental anomalies protein; CXN; DKFZp781F2016; DKFZp781L0254; FLJ22511; Nance-Horan syndrome (congenital cataracts and dental anomalies); Nance-Horan syndrome protein; SCML1
Mass (kDA):
179.135 kDA
Human | |
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Location: | Xp22.2-p22.13 |
Sequence: | X; NC_000023.11 (17375200..17735994) |
Detected at low levels in all tissues analyzed. Detected in fetal and adult brain, lens, retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. Levels in retinal pigment epithelium, placenta, lymphocytes, and fibroblasts are very low. Expressed also in kidney, lung and thymus.
[Isoform 1]: Apical cell membrane; Peripheral membrane protein. Cell projection, lamellipodium. Cell junction, tight junction. Cell junction, focal adhesion. Colocalizes with the tight junction protein TJP1 in epithelial cells. Localizes to the leading edge of lamellipodia in motile cells.; [Isoform 3]: Cytoplasm.
PMID: 14564667 by Burdon K.P., et al. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
PMID: 16675532 by Sharma S., et al. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.