DOC11 Polyclonal Antibody, 50ul Cryogenic Vials Vora (1981) [PubMed 6451249] determined

Vora (1981) [PubMed 6451249] determined that full tetrameric phophofructokinase enzyme expressed in platelets can be composed of subunits P4

It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene

Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778

This gene is a homolog of the Drosophila delta gene

Differential expression of this gene may be associated with progression of breast and prostate cancer

DOC11 Polyclonal Antibody, 50ul Cryogenic Vials Vora (1981) [PubMed 6451249] determinedThe DHR 2 domain is necessary for the GEF activity.,Guanine nucleotide exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP.,miscellaneous:'Zizim' means 'spike' in Hebrew.,PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.,Belongs to the DOCK family.,Contains 1 DHR 1 (CZH 1) domain.,Contains 1 DHR 2 (CZH 2) domain.,Contains 1 PH domain.,subunit: Interacts with CDC42.,