1. Gene
  2. MAF - MAF bZIP transcription factor Gene

MAF - MAF bZIP transcription factor Gene

Homo sapiens

Also known as CCA4; AYGRP; c-MAF; CTRCT21

Gene ID: 4094 | Gene type: protein coding

About MAF

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:79,202,622-79,600,737 (from NCBI)

This gene has 3 transcripts (splice variants), 251 orthologues, 6 paralogues and is associated with 69 phenotypes. Ubiquitous expression in kidney (RPKM 1.3), endometrium (RPKM 0.9) and 24 other tissues.

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]

MAF Products(2)

mRNA Protein Name
NM_001031804.3 NP_001026974.1 transcription factor Maf isoform b
NM_005360.5 NP_005351.2 transcription factor Maf isoform a

MAF Protein Structure

Maf_N

Maf_N: Maf N-terminal region (86 - 120)

bZIP_Maf

bZIP_Maf: bZIP Maf transcription factor (261 - 351)

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  • 373 a.a.
Protein Preferred Names Protein Names

transcription factor Maf

Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene

Related Diseases

Diseases Alias
Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Cataract 21, Multiple Types

Cataract 21 Multiple Types

CTRCT21

Cca4

Cataract 21, Multiple Types, With Or Without Microcornea

Cataract, Pulverulent, Juvenile-Onset

Congenital Cataract Cerulean Type 4

Cataract, Congenital, Cerulean Type, 4

Cataract 21 Multiple Types With Or Without Microcornea

Cataract, Pulverulent Or Cerulean, With Or Without Microcornea

Cataract Pulverulent Juvenile-Onset

Congenital Cataract Blue Dot Type 4

Cataract, Type 21, Multiple Types

Developmental And Epileptic Encephalopathy 28

DEE28

Epileptic Encephalopathy, Early Infantile, 28

Eiee28

Developmental And Epileptic Encephalopathy, 28

Early Infantile Epileptic Encephalopathy 28

Encephalopathy, Epileptic, Early Infantile, Type 28

Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12

SCAR12

Spinocerebellar Ataxia With Mental Retardation And Epilepsy

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 12

Spinocerebellar Ataxia, Autosomal Recessive, 12

Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Cataract 7

Cca1

CTRCT7

Cerulean Cataract

Cataract 7, Cerulean Type

Cataract, Congenital, Cerulean Type, 1

Cerulean Type Cataract 7

Congenital Cerulean Type Cataract 1

Cataract, Congenital, Blue Dot Type 1

Cataract, Congenital, Cerulean Type 1

Blue-Dot Cataract

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome

Cataract 30, Multiple Types

CTRCT30

Cataract 30, Pulverulent

Pulverulent Cataract

Coppock-Like Cataract

Dusty Cataract

Pulverulent Cataract 30

Cataract 30

Cataract, Pulverulent

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Plasma Cell Leukemia

Plasma Cell Leukaemia

Leukemia, Plasma Cell

Plasmacytic Leukaemia

Plasmacytic Leukemia

Pcl

Plasma Cell Leukaemia, Nos

Leukemic Plasma Cell

Plasma Cell Leukaemia Without Mention Of Remission

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Nephrogenic Adenofibroma

Metanephric Adenofibroma

Erythroleukemia
Slate Pneumoconiosis

Schistosis

Multicentric Carpotarsal Osteolysis Syndrome

Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy

MCTO

Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy

Idiopathic Multicentric Osteolysis With Or Without Nephropathy

Autosomal Dominant Multicentric Osteolysis

Hereditary Osteolysis Of Carpal Bones With Or Without Nephropathy

Multicentric Osteolysis, Autosomal Dominant

Multicentric Osteolysis Nephropathy

Osteolysis, Carpotarsal, Multicentric Syndrome

Lytic Lesion

Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness

Multiple Epiphyseal Dysplasia, Beighton Type

EDMMD

Epiphyseal Dysplasia, Multiple, With Myopia And Deafness

Multiple Epiphyseal Dysplasia With Myopia And Deafness

Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome

Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome

Multiple Epiphyseal Dysplasia With Myopia And Conductive Deafness

Dysplasia, Epiphyseal, Multiple, With Myopia And Deafness

Monoclonal Gammopathy Of Uncertain Significance

Monoclonal Gammopathy Of Undetermined Significance

Mgus

Mgus - [Monoclonal Gammopathy Of Undetermined Significance]

Monoclonal Gammopathy Nos

Iga Gammopathy

Monoclonal Gammoglobulinopathy

Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly

SRTD13

Non-Syndromic X-Linked Intellectual Disability Arx-Related

Arx-Related Intellectual Disability

Mrxarx

X-Linked Mental Retardation 29

X-Linked Mental Retardation 29 And Others

X-Linked Mental Retardation 32

X-Linked Mental Retardation 33

X-Linked Mental Retardation 38

X-Linked Mental Retardation 43

X-Linked Mental Retardation 76

X-Linked Mental Retardation 87

X-Linked Mental Retardation With Or Without Seizures Arx-Related

Mental Retardation, X-Linked, Type 29 And Others

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2

Ibmpfd2

Msp2

Multisystem Proteinopathy 2

Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay

Combined Oxidative Phosphorylation Deficiency 26

COXPD26

Combined Oxidative Phosphorylation Defect Type 26

PNSED

Oxidative Phosphorylation Deficiency, Combined, Type 26

Blood Protein Disease

Blood Protein Disorders

Blood Protein Disorder

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Smoldering Myeloma
Schindler Disease, Type I

Schindler Disease Type 1

Alpha-N-Acetylgalactosaminidase Deficiency Type 1

Schindler Disease Type 3

Alpha-N-Acetylgalactosaminidase Deficiency Type 3

Naga Deficiency Type 3

Neuroaxonal Dystrophy, Schindler Type

Naga Deficiency Type 1

Alpha-N-Acetylgalactosaminidase Deficiency, Type I

Naga Deficiency, Type I

Schindler Disease, Type Iii

N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii

Alpha-N-Acetylgalactosaminidase Deficiency, Type 1

Naga Deficiency, Type 1

Schindler Disease Type I

Schindler Disease

SCHIND

Schindler Disease, Type 3

Schindler Disease, Type 1

Pfeiffer Syndrome

Infectious Mononucleosis

Acs5

Craniofacial-Skeletal-Dermatologic Dysplasia

Acs V

Noack Syndrome

Gammaherpesviral Mononucleosis

Acrocephalosyndactyly Type 5

Pfeiffer Syndrome Type 3

Acrocephalosyndactyly, Type V

Glandular Fever

Pfeiffer Type Acrocephalosyndactyly

Pfeiffer Syndrome Type 2

Acrocephalosyndactylia Type V

Filatov'S Disease

Monocytic Angina

Mononucleosis

Pfeiffer'S Disease

Acsv

Acrocephalosyndactyly, Type 5

Craniofacial-Skeletal-Dermatologic Syndrome

Pfeiffer Syndrome Type 1

Classic Pfeiffer Syndrome

PS

Pfeiffer Syndrome Variant

Dysplasia, Craniofacial-Skeletal-Dermatologic

Pfeiffer

Kissing Disease

Infectious Adenitis

Pfeiffer Disease

Myasthenic Syndrome, Congenital, 3a, Slow-Channel

Congenital Myasthenic Syndrome 3a

CMS3A

Congenital Myasthenic Syndrome 3a, Slow-Channel

Myasthenic Syndrome, Congenital, Type 3a, Slow-Channel

Idiopathic Peripheral Autonomic Neuropathy
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Ciliary Dyskinesia, Primary, 43

CILD43

Primary Ciliary Dyskinesia 43

Ciliary Dyskinesia, Primary, 43, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 43 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 43 With Or Without Situs Inversus

Arthrogryposis, Distal, Type 2b3

DA2B3

Distal Arthrogryposis Type 2b3

Arthrogryposis, Distal, 2b3

Corneal Dystrophy, Posterior Polymorphous, 4

PPCD4

Posterior Polymorphous Corneal Dystrophy 4

Spinocerebellar Ataxia 44

SCA44

Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type

Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Deafness, Autosomal Dominant 4a

Deafness, Autosomal Dominant 4

DFNA4A

Dfna4

Autosomal Dominant Nonsyndromic Deafness 4a

Autosomal Dominant Deafness 4a

Deafness, Autosomal Dominant, 4a

Deafness Autosomal Dominant 4

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4

Deafness, Autosomal Dominant, Type 4a

Immunodeficiency 58

IMD58

Severe Combined Immunodeficiency Due To Carmil2 Deficiency

Combined Immunodeficiency Due To Carmil2 Deficiency

Combined Immunodeficiency Due To Rltpr Deficiency

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4

CILD4

Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus

Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8

CILD8

Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51

Cpsq4

Spastic Quadriplegic Cerebral Palsy 4

Spg51

Spastic Paraplegia 51, Autosomal Recessive

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta MAF VGNC VGNC:99522
Mus musculus MAF MGD MGI:96909
Bos taurus MAF VGNC VGNC:57051
Rattus norvegicus MAF RGD RGD:3034
Macaca fascicularis MAF NCBI
Others MAF NCBI