melanocyte inducing transcription factor

Summary
Gene Symbol
  • MITF
Organism
Homo sapiens (human)
NCBI Gene
4286
PubChem
4286
Alliance of Genome Resources
JoGo
MITF
TogoVar
MITF
Annotation
Keyword
  • 3D-structure
  • Activator
  • Albinism
  • Alternative splicing
  • Coiled coil
  • Cytoplasm
  • DNA-binding
  • Developmental protein
  • Disease variant
  • Isopeptide bond
  • Lysosome
  • Membrane
  • Microphthalmia
  • Nucleus
  • Osteopetrosis
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transcription regulation
  • Ubl conjugation
  • Waardenburg syndrome
Proteins
Displaying all 4 entries
UniProt Protein Name
O75030
  • Class E basic helix-loop-helix protein 32
B4DNC7
A0A087WXU1
A0A8I5KSZ4
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
microphthalmia-associated transcription factor a
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0090002 Tietz syndrome
DOID:0110950 Waardenburg syndrome type 2A
DOID:14021 Tietze's syndrome
DOID:6846 familial melanoma
DOID:9258 Waardenburg syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025