Article
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
Human molecular genetics - 15 Nov 2004
Cariboni Anna, Pimpinelli Federica, Colamarino Sophia, Zaninetti Roberta, Piccolella Margherita, Rumio Cristiano, Piva Flavio, Rugarli Elena I, Maggi Roberto
Abstract excerpt
X-linked Kallmann's syndrome (KS) is a genetic disease characterized by anosmia and hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GnRH)-producing neurons. Deletions or point mutations of a gene located at Xp22.3 (KAL1) are responsible for the disease. This gene encodes for a secreted heparin-binding protein (KAL or anosmin-1) which...
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