| Modification Notes |
DOCK 7 (dedicator of cytokinesis 7), also known as ZIR2, is a 2,140 amino acid protein that localizes to developing axons and contains one DHR-1 domain and one DHR-2 domain. Expressed in a variety of tissues, DOCK 7 functions as a guanine nucleotide exchange factor (GEF) that specifically activates Rac 1 and Rac 3 by catalyzing the exchange of bound GDP for free GTP. Multiple isoforms of DOCK 7 exist due to alternative splicing events. The gene encoding DOCK 7 maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma. |