Fas-Activated Serine/Threonine Kinase

Alternative Names

  • FASTK
  • FAST
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OMIM Number

606965

Gene Map Locus
7q36.1

Description

The FASTK gene encodes a protein belonging to the serine/threonine kinase family.  Upon activation by the Fas receptor, the FASTK protein carries out the phosphorylation of TIA1, an apoptosis promoting protein.  FASTK is thus involved in the process of apoptosis.  The protein also has several other functions, with roles in cellular respiration, mRNA processing, and mitochondrial RNA processing.

Molecular Genetics

The FASTK gene is located on the long arm of chromosome 7.  It is 4.2 kb long and consists of ten exons.  The gene encodes a 61 kDa protein made up of 549 amino acids.  Alternative splicing and alternative initiation have resulted in at least four different isoforms of the FASTK protein.  The gene is found to be expressed in the heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Shtir et al. (2016) attempted to determine candidate genes with rare variants that provide a protective effect against Diabetic Retinopathy (DR).  The study recruited 43 diabetics with no DR, 10-years after their diabetes diagnosis as cases, and 64 diabetics with DR as controls.  DNA samples from the participants were subjected to whole exome sequencing.  Statistical analysis involved combined multivariate and collapsing method at the gene level and the gene FASTK was found to reach genome-wide significance (p=3.21x10-8).  Two coding non synonymous variants (g.150774308G>A, g.150774771C>T) and 2 SNPs in the UTR region (g.150773807A>T, g.150777859A>T) of the FASTK gene were found to be significant.  The alternate alleles identified in FASTK were three times more frequent in cases than controls [Risk Ratio=3.18 (1.97, 5.11)], thus indicating a protective effect against DR.

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