Gene: DOCK6

Alternate names for this Gene: AOS2|ZIR1

Gene Summary: This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: dedicator of cytokinesis 6

Type of Gene: protein-coding

Gene: LOC105372273

Alternate names for this Gene:

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rs1280482569 in DOCK6;LOC105372273 gene and Dysmorphic features PMID 23522784 2013 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 25824905 2015 DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

PMID 28884918 2017 Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.

rs56048141 in DOCK6;LOC105372273 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.