Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs CTGA Database

A-Kinase Anchor Protein 6

Alternative Names cardiac and skeletal muscle and several regions of AKAP6 the brain. A-Kinase Anchor Protein, 100-KD AKAP100 Epidemiology in the Arab World Saudi Arabia Record Category Monies et al. (2017) described the genomic Gene locus landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a WHO-ICD 3-year-old female from a consanguineous family, N/A to gene loci presented with intellectual disability and precocious puberty. Reflex WES helped identify a novel Incidence per 100,000 Live Births heterozygous mutation (c.1874A>T, p.Y625F) in N/A to gene loci exon 4 of the patient’s AKAP6 gene, which was predicted to be deleterious. Through an internal OMIM Number matchmaking effort, the authors identified another 604691 patient with intellectual disability with a de-novo truncating variant (c.1572_1573del, Mode of Inheritance p.Lys525Glufs30*) in AKAP6. These two findings N/A to gene loci help suggest the possibility of AKAP6 being a bona-fide disease gene for intellectual disability in Gene Map Locus humans. 14q12 References Description Monies D, Abouelhoda M, AlSayed M, Alhassnan The AKAP6 gene encodes a protein belonging to Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, the A-Kinase Anchor Proteins (AKAPs) family. Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Members of this family are responsible for binding Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes to the regulatory subunit of the holoenzyme Protein B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Kinase A (PKA) and anchoring it to the nuclear Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al membrane or sarcoplasmic reticulum. AKAP6 is Saud BK, Kurdi W, Makhseed N, Alqasim T, El responsible for maintaining a cAMP-responsive Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, signaling complex consisting of PKA, PDE4D3 and Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, EPAC1. Through this complex, the AKAP6 protein Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, coordinates two coupled cAMP dependent loops. Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout The protein is also believed to play a role in the R, Dabbagh O, Shagrani M, Broering D, Tulbah M, positive regulation of cell growth, particularly in Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, cardiac muscle cell development. Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Molecular Genetics Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, The AKAP6 gene is located on the long arm of Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, chromosome 14. It spans a length of 508.4 kb of Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh DNA and its coding sequence is contained within H, AlGhonaium A, Alkharfy TM, Al Mutairi F, 20 exons. The gene encodes a 256.7 kDa protein Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani product comprising 2319 amino acids. An FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, additional 120 kDa isoform of the AKAP6 protein Alenizi AS, Hussein MH, Hassan S, Khalil M, exists due to an alternatively spliced transcript Tabarki B, Alshahwan S, Oshi A, Sabr Y, variant. The gene is found to be overexpressed in Alsaadoun S, Salih MA, Mohamed S, Sultana H,

Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, External Links Shah Z, Moghrabi N, Meyer BF, Alkuraya FS. The http://www.genecards.org/cgi- landscape of genetic diseases in Saudi Arabia based bin/carddisp.pl?gene=AKAP6 on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Aug;136(8):921-939. PMID: Contributors 28600779. Sayeeda Hana 03.08.2017 Related CTGA Records