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Target intelligence / Profile preview
MutS homolog 5 (MSH5)
- Target
- MSH5
- Molecular classification
- Other (DNA mismatch repair protein), Meiotic recombination factor
01
Overview
MutS homolog 5 (MSH5) is a member of the MutS family of proteins, which are highly conserved DNA repair factors. In humans, MSH5 forms a heterodimer with MSH4 (known as MutSγ), functioning exclusively during meiotic prophase I to facilitate homologous recombination and crossing-over, ensuring proper chromosome segregation. Unlike other MutS family proteins, MSH5 does not participate in somatic DNA mismatch repair but is essential for meiotic DNA double-strand break (DSB) repair. The MSH4-MSH5 complex binds to recombination intermediates such as Holliday junctions, stabilizes these structures, and is critical for the generation of viable gametes. Mutations or polymorphisms in MSH5 are linked with infertility, premature ovarian failure, and immunodeficiencies, highlighting its crucial role in reproductive biology and genome maintenance[1][2][3][5].
- Other names
- MutS protein homolog 5hMSH5G7MUTSH5NG23POF13SPGF74mutS protein homolog 5MSH5
02
Biological functions
Meiotic recombinationDNA repair (homologous recombination)Genome stabilityApoptosis during gametogenesis
03
Disease associations
Cancer (due to defective recombination or repair)Infertility (both male and female)Premature ovarian failureImmunodeficiency (IgA deficiency and common variable immunodeficiency)Other (associated with spermatogenic failure)
04
Safety considerations
Infertility due to loss of function[1][2][5]Genome instability[1][2]Potential increased cancer risk due to defective DNA repair[5]
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