MAK Summary

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]

MAK Details

Gene Symbol : MAK

Gene Name : Male germ cell associated kinase

Chromosome : CHR 6: 108,389,53-107,627,22

Locus : 6p24.2

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TFAP2A Summary

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

TFAP2A Details

Gene Symbol : TFAP2A

Gene Name : Transcription factor AP-2 alpha

Chromosome : CHR 6: 104,198,96-103,966,76

Locus : 6p24.3

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