Product Name	MKS1
Chinese Name	梅克尔-格鲁伯综合征相关蛋白抗体
Alias	MES; B8d3; BBS13; Dysencephalia splanchnocystica; FABB proteome like protein; FLJ20345; Gruber syndrome; Meckel gruber syndrome; Meckel gruber syndrome type 1; Meckel syndrome; Meckel syndrome type 1; Meckel syndrome type 1 protein; Meckel syndrome type 1 protein homolog; MKS 1; MKS; MKS1; POC12; POC12 centriolar protein homolog.
Research Area	Cell biology  Binding protein
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep, )
Applications	WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	64kDa
Cellular localization	cytoplasmic
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human MKS1: 215-300/559
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	MKS1 is involved in centrosome migration to the apical cell surface during early ciliogenesis. It is required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. It is also required for cell branching morphology. Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with TCTN3 and AHI1 (By similarity). Interacts with FLNA. Subcellular Location: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, centrosome. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme DISEASE: Defects in MKS1 are the cause of Meckel syndrome type 1 (MKS1) [MIM:249000]. MKS1 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in MKS1 are the cause of Bardet-Biedl syndrome type 13 (BBS13) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. Similarity: Contains 1 B9 domain. SWISS: Q9NXB0 Gene ID: 54903 Database links: Entrez Gene: 54903 Human Entrez Gene: 380718 Mouse Entrez Gene: 287612 Rat Omim: 609883 Human SwissProt: Q9NXB0 Human SwissProt: Q5SW45 Mouse SwissProt: Q499Q5 Rat Unigene: 408843 Human

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