SPATA5 gene

spermatogenesis associated 5

The information on this page was automatically extracted from online scientific databases.

From NCBI 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 mental retardation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

From UniProt:

May be involved in morphological and functional mitochondrial transformations during spermatogenesis.

From NCBI Gene:

  • Epilepsy, hearing loss, and mental retardation syndrome

From UniProt:

Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS): An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. [MIM:616577]

Cytogenetic Location: 4q28.1, which is the long (q) arm of chromosome 4 at position 28.1

Molecular Location: base pairs 122,923,070 to 123,319,450 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q28.1, which is the long (q) arm of chromosome 4 at position 28.1
  • AFG2
  • EHLMRS
  • SPAF