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Rabbit Anti-KIAA1712 antibody
Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The KIAA1712 gene product has been provisionally designated KIAA1712 pending further characterization.
Subcellular Location:
Cytoplasm; cytoskeleton; centrosome. Cytoplasm; cytoskeleton; spindle pole. Midbody. Localizes to centrosomes, spindle poles, and weakly in midbody.
SWISS:
Q9C0F1
Gene ID:
80817
Database links:
Entrez Gene: 80817 Human
SwissProt: Q9C0F1 Human
Unigene: 555989 Human
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