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- NCIT_C70585 IAO_0000115 "Human MITF wild-type allele is located within 3p14.2-p14.1 and is approximately 229 kb in length. This allele, which encodes microphthalmia-associated transcription factor protein, plays a role in both the differentiation of various cell types and the development of melanocytes in the retinal pigment epithelium. Deletion mutations in this gene are associated with both Waardenburg syndrome type IIA and Tietz syndrome. Elevated expression of this gene has been found in chemotherapy-resistant melanomas." @default.
- NCIT_C70585 NCIT_NHC0 "C70585" @default.
- NCIT_C70585 NCIT_P100 "156845" @default.
- NCIT_C70585 NCIT_P102 "NM_198178" @default.
- NCIT_C70585 NCIT_P106 "Gene or Genome" @default.
- NCIT_C70585 NCIT_P107 "MITF wt Allele" @default.
- NCIT_C70585 NCIT_P108 "MITF wt Allele" @default.
- NCIT_C70585 NCIT_P207 "C2346914" @default.
- NCIT_C70585 NCIT_P321 "4286" @default.
- NCIT_C70585 NCIT_P322 "CTRP" @default.
- NCIT_C70585 NCIT_P366 "MITF_wt_Allele" @default.
- NCIT_C70585 NCIT_P98 "The MITF gene product regulates the transcription of the melanogenic enzyme genes, including TYR and TYRP1. This gene encodes ten alternatively spliced isoforms that differ in their cellular expression. For efficient DNA binding, the gene product requires either homodimerization or formation of a heterodimer with another bHLH protein." @default.
- NCIT_C70585 NCIT_R130 NCIT_C17132 @default.
- NCIT_C70585 NCIT_R130 NCIT_C18611 @default.
- NCIT_C70585 NCIT_R130 NCIT_C19779 @default.
- NCIT_C70585 NCIT_R130 NCIT_C20633 @default.
- NCIT_C70585 NCIT_R130 NCIT_C39150 @default.
- NCIT_C70585 NCIT_R130 NCIT_C39700 @default.
- NCIT_C70585 NCIT_R130 NCIT_C39701 @default.
- NCIT_C70585 NCIT_R130 NCIT_C39704 @default.
- NCIT_C70585 NCIT_R130 NCIT_C91436 @default.
- NCIT_C70585 NCIT_R130 NCIT_C91468 @default.
- NCIT_C70585 NCIT_R130 NCIT_C91477 @default.
- NCIT_C70585 NCIT_R130 NCIT_C91624 @default.
- NCIT_C70585 NCIT_R130 NCIT_C91642 @default.
- NCIT_C70585 NCIT_R130 NCIT_C91663 @default.
- NCIT_C70585 NCIT_R130 NCIT_C91679 @default.
- NCIT_C70585 NCIT_R130 NCIT_C91682 @default.
- NCIT_C70585 NCIT_R37 NCIT_C17702 @default.
- NCIT_C70585 NCIT_R37 NCIT_C17710 @default.
- NCIT_C70585 NCIT_R37 NCIT_C17828 @default.
- NCIT_C70585 NCIT_R37 NCIT_C18219 @default.
- NCIT_C70585 NCIT_R37 NCIT_C18597 @default.
- NCIT_C70585 NCIT_R37 NCIT_C19077 @default.
- NCIT_C70585 NCIT_R37 NCIT_C19536 @default.
- NCIT_C70585 NCIT_R37 NCIT_C19986 @default.
- NCIT_C70585 NCIT_R37 NCIT_C20628 @default.
- NCIT_C70585 NCIT_R37 NCIT_C21049 @default.
- NCIT_C70585 NCIT_R37 NCIT_C21050 @default.
- NCIT_C70585 NCIT_R37 NCIT_C28498 @default.
- NCIT_C70585 NCIT_R37 NCIT_C40523 @default.
- NCIT_C70585 NCIT_R41 NCIT_C14182 @default.
- NCIT_C70585 NCIT_R41 NCIT_C14225 @default.
- NCIT_C70585 NCIT_R41 NCIT_C14234 @default.
- NCIT_C70585 NCIT_R41 NCIT_C14250 @default.
- NCIT_C70585 NCIT_R41 NCIT_C14262 @default.
- NCIT_C70585 NCIT_R41 NCIT_C14282 @default.
- NCIT_C70585 NCIT_R41 NCIT_C25796 @default.
- NCIT_C70585 NCIT_R41 NCIT_C79740 @default.
- NCIT_C70585 normalizedInformationContent "100" @default.
- NCIT_C70585 referenceCount "1" @default.
- NCIT_C70585 hasExactSynonym "CMM8" @default.
- NCIT_C70585 hasExactSynonym "Homolog of Mouse Microphthalmia Gene" @default.
- NCIT_C70585 hasExactSynonym "MI" @default.
- NCIT_C70585 hasExactSynonym "MITF wt Allele" @default.
- NCIT_C70585 hasExactSynonym "Microphthalmia, Mouse, Homolog of Gene" @default.
- NCIT_C70585 hasExactSynonym "Microphthalmia-Associated Transcription Factor wt Allele" @default.
- NCIT_C70585 hasExactSynonym "WS2" @default.
- NCIT_C70585 hasExactSynonym "WS2A" @default.
- NCIT_C70585 hasExactSynonym "Waardenburg Syndrome, Type 2A Gene" @default.
- NCIT_C70585 hasExactSynonym "bHLHe32" @default.
- NCIT_C70585 inSubset NCIT_C116977 @default.
- NCIT_C70585 inSubset NCIT_C142799 @default.
- NCIT_C70585 inSubset NCIT_C142800 @default.
- NCIT_C70585 type Class @default.
- NCIT_C70585 isDefinedBy ncit.owl @default.
- NCIT_C70585 label "MITF wt Allele" @default.
- NCIT_C70585 subClassOf NCIT_C16612 @default.
- NCIT_C70585 subClassOf NCIT_C20420 @default.
- NCIT_C70585 subClassOf NCIT_C54362 @default.
- NCIT_C70585 subClassOf NCIT_C70584 @default.
- NCIT_C70585 subClassOf NCIT_C70585 @default.
- NCIT_C70585 equivalentClass Bc2e42343e67b3630c47cf7e50288c1dc @default.
- NCIT_C70585 equivalentClass Bdc4226111c5f93a659e180bc5853181f @default.