A-Kinase Anchor Protein 6

Alternative Names

  • AKAP6
  • A-Kinase Anchor Protein, 100-KD
  • AKAP100
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OMIM Number

604691

NCBI Gene ID

9472

Uniprot ID

Q13023

Length

508,387 bases

No. of Exons

26

No. of isoforms

2

Protein Name

A-kinase anchor protein 6

Molecular Mass

256720 Da

Amino Acid Count

2319

Genomic Location

chr14:32,329,298-32,837,684

Gene Map Locus
14q12

Description

AKAP6 gene encodes a protein belonging to the A-Kinase Anchor Proteins (AKAPs) family. Members of this family are responsible for binding to the regulatory subunit of the holoenzyme Protein Kinase A (PKA) and anchoring it to the nuclear membrane or sarcoplasmic reticulum. AKAP6 is responsible for maintaining a cAMP-responsive signaling complex consisting of PKA, PDE4D3 and EPAC1. Through this complex, the AKAP6 protein coordinates two coupled cAMP dependent loops. The protein is also believed to play a role in the positive regulation of cell growth, particularly in cardiac muscle cell development.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004274.5:c.1573_1574delSaudi ArabiaNC_000014.9:g.32546226_32546227delLikely PathogenicAKAP6-related Intellectual DisabilityNM_004274.5:c.1573_1574del; NP_004265.3:p.Lys525GlufsTer30
NM_004274.5:c.1874A>TSaudi ArabiaNC_000014.9:g.32546527A>TLikely PathogenicAKAP6-related Intellectual DisabilityNM_004274.5:c.1874A>T; NP_004265.3:p.Tyr625Phe
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