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Nance-Horan syndrome protein

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May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development.

Below are the list of possible Nance-Horan syndrome protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Nance-Horan syndrome protein

 Nance-Horan syndrome protein ELISA Kit
 Nance-Horan syndrome protein Recombinant
 Nance-Horan syndrome protein Antibody
Also known as Nance-Horan syndrome protein (Congenital cataracts and dental anomalies protein).
NHS: Unknown. May have a key functions in the regulation of eye, tooth, brain and craniofacial development. Defects in NHS are the cause of Nance-Horan syndrome (NHS); also known as cataract-dental syndrome. NHS is a rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysm
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orphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described. Defects in NHS are the cause of cataract congenital X- linked (CXN). A X-linked form of cataract, manifesting as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. Caused by copy number variations predicted to result in altered transcriptional regulation of the NHS gene: a 0.8 Mb segmental duplication- triplication encompassing the NHS, SCML1 and RAI2 genes, and an 4.8 kb intragenic deletion in NHS intron 1. Belongs to the NHS family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion

Chromosomal Location of Human Ortholog: Xp22.13

Disease: Cataract 40; Nance-horan Syndrome
 NHS ELISA Kit
 NHS Recombinant
 NHS Antibody
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