rs587777127
This is a variant in the MAF gene that changes a glycine to an arginine.
▶ClinVar annotation
Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 1 (DEE1)
View on ClinVar →About MAF
The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
View all MAF variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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