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AMHR2 anti-Mullerian hormone receptor type 2

Also known as: AMHR; MRII; MISR2; MISRII

Summary

This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]

Associated conditions

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DescriptionTests
Persistent Mullerian duct syndrome
MedGen: C1849930OMIM: 261550GeneReviews: Not available
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Genomic context

Location:
12q13.13
Sequence:
Chromosome: 12; NC_000012.12 (53423855..53431672)
Total number of exons:
13

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