Product Name	Anti-FAM83H/AF594
Chinese Name	AF594标记的FAM83H蛋白抗体
Alias	AI3; FA83H_HUMAN; Fam83h; Family with sequence similarity 83 member H; Protein FAM83H.
Research Area	Cell biology  immunology
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	Human, Rat,  (predicted: Mouse, Dog, Cow, Horse, Sheep, )
Applications	ICC=1:50-200 IF=1:50-200  not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Molecular weight	127kDa
Form	Lyophilized or Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human FAM83H
Lsotype	IgG
Purification	affinity purified by Protein A
Storage Buffer	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	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.
Product Detail	background: Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The FAM83H gene product has been provisionally designated FAM83H pending further characterization. Function: May play a major role in the structural organization and calcification of developing enamel. Tissue Specificity: Expressed in the tooth follicle. DISEASE: Defects in FAM83H are the cause of amelogenesis imperfecta type 3 (AI3) [MIM:130900]. AI3 is an autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3 is characterized by enamel of normal thickness, but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. Similarity: Belongs to the FAM83 family. Database links: Entrez Gene: 286077 Human Omim: 611927 Human SwissProt: Q6ZRV2 Human Unigene: 67776 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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