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AMHR2

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.
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

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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