Microphthalmia-Associated Transcription Factor

Alternative Names

  • MITF
  • Melanocyte Inducing Transcription Factor
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OMIM Number

156845

NCBI Gene ID

4286

Uniprot ID

O75030

Length

228,903 bases

No. of Exons

17

No. of isoforms

12

Protein Name

Microphthalmia-associated transcription factor

Molecular Mass

58795Da

Amino Acid Count

526

Genomic Location

chr3:69739435-69968337

Gene Map Locus
3p13

Description

The MITF gene encodes microphthalmia-associated transcription factor, which belongs to the MiT/TFE family of transcription factors and contains structural features such as basic helix-loop-helix (bHLH) and leucine zipper. Dimerization of this transcription factor enables its efficient binding to the regulatory elements present in the promoter region of target genes. Transactivation of these genes by microphthalmia-associated transcription factor plays a vital role in the development of melanocytes and melanogenesis.

Mutations in MITF gene are linked to Waardenburg Syndrome Type 2A and Tietz Albinism-Deafness Syndrome.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000003.12:g.69576082_70313620delUnited Arab EmiratesNC_000003.12:g.69576082_70313620delLikely PathogenicWaardenburg Syndrome, Type 2A
NM_000248.3:c.33+5G>CSyriachr3:69936760Likely PathogenicLikely PathogenicWaardenburg Syndrome, Type 2ANG_011631.1:g.202279G>C; NM_000248.3:c.33+5G>C1236436555545639
NM_000248.3:c.710+5G>TLebanonNC_000003.12:g.69956535G>TWaardenburg Syndrome, Type 2ANG_011631.1:g.222054G>T; NM_000248.3:c.710+5G>T
NM_001354604.2:c.1031C>TLebanon; Saudi Arabiachr3:69956530Uncertain SignificanceLikely PathogenicDeafness, Autosomal Recessive 3NG_011631.1:g.222049C>T; NM_001354604.2:c.1031C>T; NP_001341533.1:p.Pro344Leu756923654800541
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