HORMAD1
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HORMA domain-containing protein 1 (HORMAD1) also known as cancer/testis antigen 46 (CT46) is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''HORMAD1''
gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.


Function

HORMAD1 is a cancer/testis antigen that plays a key role in meiotic progression. It has shown to regulate 3 different functions during meiosis. Specifically, it: # Ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends # Promotes synaptonemal-complex formation independently of its role in homology search. #Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes (By similarity)


Role in cancer

HORMAD1 has been shown to have a role in Triple-Negative Breast Cancers and in Lung Adenocarcinomas. In particular, the Watkins et al., paper suggested that overexpression of ''HORMAD1'' is a driver of homologous recombination repair deficiency in these types of breast cancers, and induced widespread allelic imbalances in the genome with implications for platinum and PARP inhibitor sensitivity.


References


Further reading

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