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Protein Domain : Actin remodeling regulator NHS

Primary Identifier  IPR024845 Type  Family
Short Name  NHS_fam
description  Nance-Horan syndrome is an X-linked disorder characterised by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation []. The syndrome is caused by defects in the NHS gene [], which appears to play a key role in the regulation of eye, tooth, brain, and craniofacial development []. It may function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipodia formation []. However, the protein's exact function is unknown.This entry represents the NHS protein family, which includes NHS protein and NHS-like proteins 1 and 2.

0 Child Features

0 Parent Features

9 Protein Domain Regions