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AMHR2
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For Research Use Only. Not For Clinical Use.
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]
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Group enriched (Theca cells, Granulosa cells, granulocytes)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Group enriched (HEL, K-562)
Interaction
Interacts with type I receptor ACVR1.
Molecular function
Kinase, Receptor, Serine/threonine-protein kinase, Transferase
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