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Rabbit Anti-IQCA1/FITC Conjugated antibody
background:
The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr鰉 syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
Similarity:
Belongs to the AAA ATPase family.
Contains 1 IQ domain.
Database links:
Entrez Gene: 79781 Human
Entrez Gene: 74918 Mouse
Entrez Gene: 316616 Rat
SwissProt: Q86XH1 Human
SwissProt: Q9CUL5 Mouse
Unigene: 591594 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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