• PMID: 9185079
• Gene Name: CD46
• Condition: Male infertility, Sperm-specific abnormalities
• Association: The three patients expressed normal CD46 isoforms on their lymphocytes and granulocytes. Sperm-specific abnormalities in these proteins thus parallel male infertility, suggesting a new category of infertility, probably due to aberrations in the molecules
• Population size: 3
• Population details: 3 infertile patients
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility, Sperm-specific abnormalities

Possible association of infertility with sperm-specific abnormality of CD46

Kitamura M, Matsumiya K, Yamanaka M, Takahara S, Hara T, Matsumoto M, Namiki M, Okuyama A, Seya T.

Three infertile patients fulfilling normal or subnormal criteria on routine semen analysis showed abnormal sperm CD46 (membrane cofactor protein of complement) by SDS-PAGE/immunoblotting analysis using a panel of monoclonal antibodies. The sperm CD46 isoform has been reported to be associated with sperm-egg interaction. These three patients expressed normal CD46 isoforms on their lymphocytes and granulocytes. Sperm-specific abnormalities in these proteins thus parallel male infertility, suggesting a new category of infertility, probably due to aberrations in the molecules related to sperm-egg interaction. FAU - Kitamura, M AU - Kitamura M AD - Department of Immunology, Center for Adult Diseases Osaka, Japan. FAU - Matsumiya, K AU - Matsumiya K FAU - Yamanaka, M AU - Yamanaka M FAU - Takahara, S AU - Takahara S FAU - Hara, T AU - Hara T FAU - Matsumoto, M AU - Matsumoto M FAU - Namiki, M AU - Namiki M FAU - Okuyama, A AU - Okuyama A