Dedicator Of Cytokinesis 6

Alternative Names

DOCK6
KIAA1395

Length

63,230 bases

No. of Exons

No. of isoforms

Protein Name

Dedicator of cytokinesis protein 6

Molecular Mass

229558 Da

Amino Acid Count

2047

Genomic Location

chr19:11,199,294-11,262,523

Gene Map Locus

19p13.2

Description

DOCK6 gene encodes a protein known as a guanine nucleotide exchange factor (GEF), a member of the dedicator of cytokinesis (DOCK) family. GEF proteins activate proteins called GTPases, which play an important role in chemical signaling within cells. The DOCK6 protein specifically activates Cdc42 and Rac1 GTPases by exchanging GTP for the attached GDP. Cdc42 and Rac1 play a critical role in actin cytoskeletal reorganization. The DOCK6 protein regulates these GTPases during development of the limbs, skull, and heart. DOCK6 protein also plays a role in the development of axons.

Defects in this protein have been associated with Adams-Oliver syndrome, a condition characterized by aplasia cutis congenita, usually on the scalp, and malformations of the hands and feet.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_020812.4:c.1362_1365del	Saudi Arabia	NC_000019.10:g.11243281_11243284del	Likely Pathogenic, Pathogenic	Pathogenic	Adams-Oliver Syndrome 2	NG_031953.1:g.24211_24214del; NM_020812.4:c.1362_1365del; NP_065863.2:p.Thr455SerfsTer24	730882238	183335
NM_020812.4:c.2520dup	Arab	NC_000019.10:g.11235634dup	Pathogenic	Pathogenic	Adams-Oliver Syndrome 2	NG_031953.1:g.31861dup; NM_020812.4:c.2520dup; NP_065863.2:p.Arg841SerfsTer6	397509398	55814
NM_020812.4:c.5254T>C	Saudi Arabia	NC_000019.10:g.11202691A>G		Uncertain Significance	Adams-Oliver Syndrome 2	NG_031953.1:g.64802T>C; NM_020812.4:c.5254T>C; NP_065863.2:p.Phe1752Leu

Download Table

Other Reports

Saudi Arabia

Shaheen et al. (2011) described two unrelated individuals born to consanguineous parents with autosomal recessive Adams-Oliver syndrome. The first patient was an 11-months-old girl who presented with severe and global developmental delay, recurrent seizures, and poor vision. Using autozygome data with next-generation sequencing, a novel c.1362_1365delAACT deletion in DOCK6 gene was identified in the affected patient, and the parents were found to be carriers. The second patient was a 3.5-year-old girl who had congenital deformity of the hands and feet. A homozygous c.1245dupT duplication mutation in the DOCK6 gene was found in this patient.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK6 https://medlineplus.gov/genetics/gene/dock6/

Contributors

Asha Deepthi: 05.10.2022
Asha Deepthi: 11.11.2021
Nada Assaf: 31.05.2016

Edit History

Asha Deepthi: 05.10.2022
Asha Deepthi: 11.11.2021
Sami Bizzari: 28.07.2016

Back to search Result