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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MITF (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4286
Official gene symbolMITF
Full namemicrophthalmia-associated transcription factor
Aliases,MI,WS2A,bHLHe32,
Gene summaryThis gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]
LocationChromosome: 3   Locus: 3p14.2-p14.1
Gene position69788586 - 70017488  Map Viewer
Gene orientationplus
Gene size228903 bp
Gene sequence
OMIM ID156845