Gene: LOC105372273
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
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
rs200472954 in
LOC105372273;DOCK6 gene and
ADAMS-OLIVER SYNDROME 2
PMID 21820096 2011 Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
rs568049240 in
LOC105372273;DOCK6 gene and
Dysmorphic features
PMID 28884918 2017 Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.
PMID 25824905 2015 DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
PMID 23522784 2013 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.