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

rs30388 in MAF gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs30388 in MAF gene and AIDS, PROGRESSION TO PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs17797882 in MAF gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 22158537 2011 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

rs11150152 in MAF gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs30388 in MAF gene and HIV-1 infection PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs30388 in MAF gene and HIV-1, RESISTANCE TO PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs30388 in MAF gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 25461247 2015 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols.

rs8054578 in MAF gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4547347 in MAF gene and Peripheral Arterial Diseases PMID 27082954 2016 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

rs8045027 in MAF gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.