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.
SWISS:
Q6ZRV2
Gene ID:
286077
Database links:
Entrez Gene: 286077 Human
Omim: 611927 Human
SwissProt: Q6ZRV2 Human
Unigene: 67776 Human
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Protein: HL-60(human) lysate at 40ug;
Primary: rabbit Anti-FAM83H (SL16018R) at 1:300;
Secondary: HRP conjugated Goat-Anti-rabbit IgG(SL0295G-HRP) at 1: 5000;
Predicted band size: 127 kD
Observed band size: 127 kD
Paraformaldehyde-fixed, paraffin embedded (Rat stomach); 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 (FAM83H) Polyclonal Antibody, Unconjugated (SL16018R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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