Nance-Horan Syndrome Protein antibody_详细资料

产品信息

保存条件： -20 °C 浓度： 1mg/ml 应用范围： ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 形态：冻干粉或液体亚型： IgG 免疫原： KLH conjugated synthetic peptide derived from human Nance-Horan Syndrome Protein:1451-1550/1651 适应物种： Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, 宿主： Rabbit 抗体英文名： Nance-Horan Syndrome Protein antibody 保质期： 12个月抗原来源： Rabbit 克隆性：多克隆目录编号： kl-19007R 数量：大量供应商：上海康朗生物科技有限公司规格： 100ul 200ul

Nance-Horan Syndrome Protein antibody

中文名称南斯-霍兰综合征蛋白抗体

别    名 Congenital cataracts and dental anomalies protein; CXN; Nance-Horan syndrome protein; nhs; NHS_HUMAN; RP3-389A20.6; SCML1.

规格价格 100ul/1380元购买    200ul/2200元购买    大包装/询价

说明书 100ul  200ul

研究领域细胞生物  神经生物学  干细胞

抗体来源 Rabbit

克隆类型 Polyclonal

交叉反应 Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep,

产品应用 ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.

分子量 179kDa

细胞定位细胞核

性    状 Lyophilized or Liquid

浓    度 1mg/ml

免疫原 KLH conjugated synthetic peptide derived from human Nance-Horan Syndrome Protein:1451-1550/1651

亚    型 IgG

纯化方法 affinity purified by Protein A

储存液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed PubMed

产品介绍 background:
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]

Function:
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.

Subunit:
Interacts with the tight junction protein TJP1/ZO-1. Associates with actin-rich structures. Interacts with BRK1 and with all three members of the WAVE protein family, WASF1, WASF2 and WASF3.

Subcellular Location:
Nucleus.

Tissue Specificity:
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.

DISEASE:
Nance-Horan syndrome (NHS) [MIM:302350]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Cataract 40 (CTRCT40) [MIM:302200]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
Note: The disease is caused by mutations affecting the gene represented in this entry. 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.

Similarity:
Belongs to the NHS family.

SWISS:
Q6T4R5

Gene ID:
4810

Database links:
Entrez Gene: 4810 Human

Omim: 300457 Human

SwissProt: Q6T4R5 Human

Unigene: 201623 Human

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

产品图片
Paraformaldehyde-fixed, paraffin embedded (Rat liver); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Nance-Horan Syndrome Protein) Polyclonal Antibody, Unconjugated (bs-19007R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.

Paraformaldehyde-fixed, paraffin embedded (Mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Nance-Horan Syndrome Protein) Polyclonal Antibody, Unconjugated (bs-19007R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.

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中文名称	南斯-霍兰综合征蛋白抗体
别名	Congenital cataracts and dental anomalies protein; CXN; Nance-Horan syndrome protein; nhs; NHS_HUMAN; RP3-389A20.6; SCML1.
规格价格	100ul/1380元购买 200ul/2200元购买大包装/询价
说明书	100ul 200ul
研究领域	细胞生物神经生物学干细胞
抗体来源	Rabbit
克隆类型	Polyclonal
交叉反应	Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep,
产品应用	ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
分子量	179kDa
细胞定位	细胞核
性状	Lyophilized or Liquid
浓度	1mg/ml
免疫原	KLH conjugated synthetic peptide derived from human Nance-Horan Syndrome Protein:1451-1550/1651
亚型	IgG
纯化方法	affinity purified by Protein A
储存液	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件	Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
PubMed	PubMed
产品介绍	background: 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] Function: 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. Subunit: Interacts with the tight junction protein TJP1/ZO-1. Associates with actin-rich structures. Interacts with BRK1 and with all three members of the WAVE protein family, WASF1, WASF2 and WASF3. Subcellular Location: Nucleus. Tissue Specificity: 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. DISEASE: Nance-Horan syndrome (NHS) [MIM:302350]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Cataract 40 (CTRCT40) [MIM:302200]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Note: The disease is caused by mutations affecting the gene represented in this entry. 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. Similarity: Belongs to the NHS family. SWISS: Q6T4R5 Gene ID: 4810 Database links: Entrez Gene: 4810 Human Omim: 300457 Human SwissProt: Q6T4R5 Human Unigene: 201623 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
产品图片	Paraformaldehyde-fixed, paraffin embedded (Rat liver); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Nance-Horan Syndrome Protein) Polyclonal Antibody, Unconjugated (bs-19007R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining. Paraformaldehyde-fixed, paraffin embedded (Mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Nance-Horan Syndrome Protein) Polyclonal Antibody, Unconjugated (bs-19007R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.