SPATA8

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The SPATA8 Gene: Connecting Cancer, Neurological Disorders, and Immunodeficiency

Description

The SPATA8 gene, also known as Spermatogenesis Associated 8, resides on the X chromosome. It plays a crucial role in several cellular processes, including:

• Spermatogenesis (sperm production)
• Cell adhesion and migration
• DNA repair
• Immunity

The SPATA8 protein, encoded by this gene, is involved in various signaling pathways that regulate cell growth, differentiation, and survival.

Associated Diseases

Mutations in the SPATA8 gene have been linked to a number of diseases, including:

• Cancer: Breast cancer, prostate cancer, lung cancer
• Neurological disorders: Spinocerebellar ataxia type 5 (SCA5), intellectual disability
• Immunodeficiency: Severe combined immunodeficiency (SCID)

Did you Know ?

• Mutations in the SPATA8 gene account for approximately 10% of cases of SCA5, a rare inherited neurological disorder.