Gene Symbol | MAF |
Entrez Gene ID | 4094 |
Full Name | MAF bZIP transcription factor |
Synonyms | AYGRP,CCA4,CTRCT21,c-MAF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cataract 21, multiple types, 610202 (3); Ayme-Gripp syndrome, 601088 (3) |