SPACA3

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The SPACA3 Gene: An Intriguing Enigma in Neurodevelopmental Disorders

Description

The SPACA3 gene, located on chromosome 11p15.1, encodes a protein known as sperm acrosomal protein CAP3. This protein plays a crucial role in sperm function, particularly in the penetration of the egg during fertilization.

Associated Diseases

Mutations in the SPACA3 gene have been linked to a rare neurodevelopmental disorder known as microcephaly with intellectual disability and speech delay. Microcephaly is characterized by an unusually small head size, while intellectual disability and speech delay refer to impairments in cognitive abilities and language development.

Did you Know ?

According to a study published in the American Journal of Human Genetics, SPACA3 mutations account for approximately 1% of cases of microcephaly with intellectual disability and speech delay. This highlights the significance of this gene in the etiology of this rare disorder.