Aliases for SPATA5 Gene
External Ids for SPATA5 Gene
Previous GeneCards Identifiers for SPATA5 Gene
This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
GeneCards Summary for SPATA5 Gene
SPATA5 (Spermatogenesis Associated 5) is a Protein Coding gene. Diseases associated with SPATA5 include Epilepsy, Hearing Loss, And Mental Retardation Syndrome and Heart Conduction Disease. Among its related pathways are Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is SPATA5L1.
UniProtKB/Swiss-Prot for SPATA5 Gene
May be involved in morphological and functional mitochondrial transformations during spermatogenesis.