Mitf - melanogenesis associated transcription factor Gene
Also Known as Wh; bw; mi; vit; BCC2; Bhlhe32; Gsfbcc2; Vitiligo
Species: Mus musculus
Summary
This transcription factor serves at a critical point between extracellular signaling and downstream targets in cell specification in early eye and neural crest development. Mutant alleles have been identified that generate distinct phenotypes. Some of these alleles are being used to model the human diseases Waardenburg syndrome IIa and Tietz syndrome. [provided by RefSeq, Jul 2008]
Mitf Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_001113198.2 | NP_001106669.1 | microphthalmia-associated transcription factor isoform 1 |
| NM_001178049.2 | NP_001171520.1 | microphthalmia-associated transcription factor isoform 3 |
| NM_001410051.1 | NP_001396980.1 | microphthalmia-associated transcription factor isoform 4 |
| NM_001410052.1 | NP_001396981.1 | microphthalmia-associated transcription factor isoform 5 |
| NM_001410053.1 | NP_001396982.1 | microphthalmia-associated transcription factor isoform 6 |
| NM_001410054.1 | NP_001396983.1 | microphthalmia-associated transcription factor isoform 7 |
| NM_001410055.1 | NP_001396984.1 | microphthalmia-associated transcription factor isoform 8 |
| NM_001410056.1 | NP_001396985.1 | microphthalmia-associated transcription factor isoform 9 |
| NM_001410057.1 | NP_001396986.1 | microphthalmia-associated transcription factor isoform 10 |
| NM_001410058.1 | NP_001396987.1 | microphthalmia-associated transcription factor isoform 11 |
| NM_001410059.1 | NP_001396988.1 | microphthalmia-associated transcription factor isoform 12 precursor |
| NM_008601.4 | NP_032627.1 | microphthalmia-associated transcription factor isoform 2 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
12235125 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
microphthalmia-associated transcription factor |
|