SPAM1

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Title: Delving into the Spam1 Gene: Unraveling its Role in Health and Disease

Description:

The Spam1 gene, located on chromosome 17, encodes a protein known as Sperm Associated Antigen 1. This protein plays a crucial role in various biological processes, including cell division, cell adhesion, and signal transduction.

Associated Diseases:

Mutations in the Spam1 gene have been linked to several inherited genetic disorders, including:

• Ichthyosis congenita: A rare skin condition characterized by severe scaling and thickening of the skin.
• Nephronophthisis: A chronic kidney disease that affects the filtration capacity of the kidneys.
• Senior-Loken syndrome: A rare disorder characterized by intellectual disability, distinctive facial features, and kidney problems.

Did you Know ?

Approximately 1 in 500,000 people worldwide are affected by ichthyosis congenita, caused by mutations in the Spam1 gene.