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Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism

S Salian-Mehta1, M Xu, A J Knox

  • 1Division of Endocrinology, Metabolism, and Diabetes (S.S.-M., M.X., A.J.K., M.E.W.), Division of Cardiology (D.S., M.T.), and Department of Biochemistry and Molecular Genetics (S.B., R.S.H.), University of Colorado School of Medicine, Aurora, Colorado 80045; Veterans Affairs Research Service (M.E.W.), Veterans Affairs Medical Center, Denver, Colorado 80220; and Harvard Reproductive Endocrine Science Center and the Reproductive Endocrine Unit (L.P., W.F.C.), Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114.

The Journal of Clinical Endocrinology and Metabolism
|January 31, 2014
PubMed
Summary

The AXL gene is crucial for reproductive development, impacting GnRH neuron migration and function. Mutations in AXL are rare but can cause hypogonadotropic hypogonadism, affecting sexual maturation.

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