Human Nance-Horan syndrome (congenital cataracts and dental anomalies) ELISA Kit | NHS elisa kit

Human Nance-Horan syndrome protein, NHS ELISA Kit

Cat. Num. AAA9338271

• Gene Names: NHS; CXN; SCML1; CTRCT40
• Reactivity: Human
• Synonyms: Nance-Horan syndrome (congenital cataracts and dental anomalies); Human Nance-Horan syndrome protein; NHS ELISA Kit; Human Nance-Horan syndrome protein (NHS) ELISA kit; RP3-389A20.6; DKFZp781F2016; DKFZp781L0254; FLJ22511; SCML1; Nance-Horan syndrome protein; NHS elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 209862849
• NCBI GeneID: 4810
• NCBI Accession #: NP_001129496.1
• NCBI GenBank Nucleotide #: NM_001136024.3
• UniProt Accession #: Q6T4R5; Q5J7Q0; Q5J7Q1; Q68DR5; B7ZVX8; E2DH69
• Molecular Weight: 179,135 Da
• NCBI Official Full Name: Nance-Horan syndrome protein isoform 2
• NCBI Official Synonym Full Names: Nance-Horan syndrome (congenital cataracts and dental anomalies)
• NCBI Official Symbol: NHS
• NCBI Official Synonym Symbols: CXN; SCML1; CTRCT40
• NCBI Protein Information: Nance-Horan syndrome protein; congenital cataracts and dental anomalies protein
• UniProt Protein Name: Nance-Horan syndrome protein
• Protein Family: Nance-Horan syndrome protein
• UniProt Gene Name: NHS
• UniProt Entry Name: NHS_HUMAN

NCBI Description

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Uniprot Description

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, 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). 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

Cellular Component: tight junction; focal adhesion; lamellipodium; apical plasma membrane; cytoplasm

Biological Process: lens development in camera-type eye; cell differentiation

Disease: Cataract 40; Nance-horan Syndrome