Transcriptional Regulating Factor 1

Alternative Names

  • TRERF1
  • Transcriptional Regulating Protein, 132-kD
  • TREP132
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OMIM Number

610322

Gene Map Locus
6p21.1

Description

The TRERF1 gene encodes Transcriptional Regulating Factor 1, a zinc finger protein with transcription factor activity.  Specifically, the TRERF1 protein interacts with CBP/p300 and activates the transcription of the CYP11A1 gene in steroidal tissues by binding to the gene’s promoter region.  CYP11A1 encodes a mitochondrial enzyme involved in the first step of the synthesis of all steroid hormones, i.e. the catalysis of cholesterol to pregnenolone.  Hence its activation by TRERF1 is an important biological process required for steroid biosynthesis and the maintenance of homeostasis.

Molecular Genetics

The TRERF1 gene is located on the short arm of chromosome 6.  It spans a length of 227 kb of DNA and its coding sequence is contained within 26 exons.  The protein product encoded by the TRERF1 gene consists of 1200 amino acids and has a molecular mass of 132 kDa.  Alternative splicing results in multiple transcript variants encoding different isoforms of the TRERF1 protein.  The gene is found to be highly expressed in the thymus, testes, adrenal cortex, adrenal medulla, thyroid, and stomach.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Anazi et al. (2016) evaluated a cohort of 337 Intellectual Disability (ID) patients to determine the effectiveness of genomic tools as a diagnostic test.  In a 2.5 year old Saudi girl suffering from global developmental delay, seizures, hydronephrosis, IUGR, oligohydramnios, upslanted palpebral fissures, unsteady gait, hyperreflexia, abnormality of cerebral white matter, CNS hypomyelination and lactic acidosis, exome sequencing helped uncover a homozygous c.476T>A (p.Val159Asp) mutation in the TRERF1 gene.  The amino acid change was suggested to affect binding to ligands or DNA. 

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