MITF Chromosome 3
Melanocyte inducing transcription factor
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What This Gene Does
The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is 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. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
3p13
Ensembl
ENSG00000187098
Associated Conditions (31)
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma
cutaneous malignant
susceptibility to
8
MITF-related disorder
Hereditary cancer-predisposing syndrome
Coloboma
osteopetrosis
microphthalmia
macrocephaly
albinism
and deafness
Uveal melanoma
Familial melanoma
Intellectual disability
Waardenburg syndrome type 2
Anophthalmia-microphthalmia syndrome
Waardenburg syndrome
+11 more conditions
Key Variants
RS1032758072
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
Health Risk
RS1057522775
Conflicting classifications of pathogenicity
Melanoma, cutaneous malignant, susceptibility to
Health Risk
RS1179860852
Conflicting classifications of pathogenicity
Melanoma, cutaneous malignant, susceptibility to
Health Risk
RS1193795003
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
Health Risk
RS1271000541
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2A, MITF-related disorder, Tietz syndrome
Health Risk
RS137944487
Conflicting classifications of pathogenicity
Tietz syndrome, Melanoma, cutaneous malignant
Health Risk
RS1388406920
Conflicting classifications of pathogenicity
Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
Health Risk
RS143224466
Conflicting classifications of pathogenicity
Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
Health Risk
RS143537610
Conflicting classifications of pathogenicity
Melanoma, cutaneous malignant, susceptibility to
Health Risk
RS144757214
Conflicting classifications of pathogenicity
Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
Health Risk
RS145325518
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2A, Tietz syndrome, Melanoma
Health Risk
RS147883651
Conflicting classifications of pathogenicity
Tietz syndrome, Waardenburg syndrome type 2A, Melanoma
Health Risk
All Variants (119)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2107483975 | Health Risk | Pathogenic | Waardenburg syndrome type 2A, Waardenburg syndrome type 2A |
| RS2107537021 | Health Risk | Pathogenic | Tietz syndrome, Waardenburg syndrome type 2A, Melanoma |
| RS2107552171 | Health Risk | Pathogenic | Waardenburg syndrome type 2A, Waardenburg syndrome type 2A |
| RS2471584748 | Health Risk | Pathogenic | Tietz syndrome, Waardenburg syndrome type 2A, Melanoma |
| RS2471591500 | Health Risk | Pathogenic | Tietz syndrome, Waardenburg syndrome type 2A, Melanoma |
| RS2471620779 | Health Risk | Pathogenic | Melanoma, cutaneous malignant, susceptibility to |
| RS2471621034 | Health Risk | Pathogenic | Tietz syndrome, Waardenburg syndrome type 2A, Melanoma |
| RS876657698 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS876657700 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS878853234 | Health Risk | Pathogenic | Waardenburg syndrome type 2A, Waardenburg syndrome type 2A |
| RS1057517966 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2A, Congenital sensorineural hearing impairment, Tietz syndrome |
| RS1057521096 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2A, Melanoma, cutaneous malignant |
| RS1236436555 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2, Tietz syndrome, Waardenburg syndrome type 2A |
| RS147682682 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2A, MITF-related disorder, Waardenburg syndrome type 2 |
| RS1553702006 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2A, Tietz syndrome, Melanoma |
| RS1553704097 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2A, Tietz syndrome, Melanoma |
| RS1559745185 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2, Waardenburg syndrome type 2 |
| RS2471585091 | Health Risk | Pathogenic/Likely pathogenic | Tietz syndrome, Waardenburg syndrome type 2A, Melanoma |
| RS876657699 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Waardenburg syndrome type 2A, Waardenburg syndrome type 2 |