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Rabbit Anti-DOCK10 antibody
DOCK 10 is a 2,183 amino acid protein that belongs to the DOCK family of cytokinesis-regulating proteins and cotnains one PH domain, one DHR-1 domain and one DHR-2 domain. Expressed at lower levels in lung and brain tissue, DOCK 10 functions as a potential GEF (guanine nucleotide exchange factor) that is able to activate target GTPases by exchanging bound GDP for free GTP. Multiple isoforms of DOCK 10 exist due to alternative splicing events. The gene encoding DOCK 10 maps to human chromosome 2, which houses over 1,400 genes and comprises nearly 8% of the human genome. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, Alstr鰉 syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2.
Function:
DOCK10 is a potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Two named isoforms exist, produced by alternative splicing.
Tissue Specificity:
Expressed at low level in brain and lung. Isoform 1 is enriched in normal T-cells, isoform 3 is enriched in normal B-cells and chronic lymphocytic leukemia (CLL) B-cells.
Similarity:
Belongs to the DOCK family.
Contains 1 DHR-1 domain.
Contains 1 DHR-2 domain.
Contains 1 PH domain.
SWISS:
Q96BY6
Gene ID:
55619
Database links:
Entrez Gene: 55619 Human
Omim: 611518 Human
SwissProt: Q96BY6 Human
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