Anti-Nance-Horan Syndrome蛋白抗体(ab122177)

Unknown. May have a key functions in the regulation of eye, tooth, brain and craniofacial development.

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.

Defects in NHS are the cause of Nance-Horan syndrome (NHS) [MIM:302350]; also known as cataract-dental syndrome. NHS is a rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic 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) [MIM:302200]. 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. Note=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.

Nucleus.