CATSPER2
cation channel sperm associated 2
Normal Function
Health Conditions Related to Genetic Changes
Deafness-infertility syndrome
Deafness-infertility syndrome is caused by a deletion of genetic material on the long (q) arm of chromosome 15. This condition is characterized by the combination of hearing loss and difficulty conceiving children (a condition called infertility).
The chromosomal region that is typically deleted in people with this condition contains multiple genes, including the CATSPER2 gene. People with this condition have the deletion in both copies of chromosome 15 in each cell. As a result of the deletion, no CATSPER2 protein is produced. A lack of CATSPER2 protein impairs Ca2+ entry into the sperm cell and prevents hyperactivation. Without hyperactivation, sperm have decreased motility and are unable to push through the membrane of the egg cell and achieve fertilization.
Loss of another gene on chromosome 15, the STRC gene, is responsible for the hearing loss in affected individuals. Researchers are working to determine how the loss of additional genes in the deleted region affects people with deafness-infertility syndrome.
More About This Health ConditionRelated Conditions
Deafness-infertility syndrome
Health Conditions Related to Genetic Changes
Deafness-infertility syndrome is caused by a deletion of genetic material on the long (q) arm of chromosome 15. This condition is characterized by the combination of hearing loss and difficulty conceiving children (a condition called infertility).
The chromosomal region that is typically deleted in people with this condition contains multiple genes, including the CATSPER2 gene. People with this condition have the deletion in both copies of chromosome 15 in each cell. As a result of the deletion, no CATSPER2 protein is produced. A lack of CATSPER2 protein impairs Ca2+ entry into the sperm cell and prevents hyperactivation. Without hyperactivation, sperm have decreased motility and are unable to push through the membrane of the egg cell and achieve fertilization.
Loss of another gene on chromosome 15, the STRC gene, is responsible for the hearing loss in affected individuals. Researchers are working to determine how the loss of additional genes in the deleted region affects people with deafness-infertility syndrome.