Gene: LOC101928230

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: MAF

Alternate names for this Gene: AYGRP|CCA4|CTRCT21|c-MAF

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.2

Description of this Gene: MAF bZIP transcription factor

Type of Gene: protein-coding

rs121917735 in LOC101928230;MAF gene and CATARACT 21, MULTIPLE TYPES PMID 11772997 2002 Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

PMID 24664492 2014 Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

PMID 16470690 2006 "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant ""cerulean cataract"" in an Indian family."