Aliases for MAK Gene
External Ids for MAK Gene
Previous GeneCards Identifiers for MAK Gene
The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
GeneCards Summary for MAK Gene
MAK (Male Germ Cell Associated Kinase) is a Protein Coding gene. Diseases associated with MAK include Retinitis Pigmentosa 62 and Isolated Macular Dystrophy. Among its related pathways are Coregulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CILK1.
UniProtKB/Swiss-Prot Summary for MAK Gene
Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells.