About: MITF wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • MITF wt Allele
rdfs:subClassOf
equivalentClass
OMIM_Number
  • 156845
GenBank_Accession_Number
  • NM_198178
Semantic_Type
  • Gene or Genome
Preferred_Name
  • MITF wt Allele
UMLS_CUI
  • C2346914
EntrezGene_ID
  • 4286
Legacy_Concept_Name
  • MITF_wt_Allele
HGNC_ID
  • HGNC:7105
FULL_SYN
  • MITF wt AllelePTNCI
  • MISYNCI
  • WS2ASYNCI
  • Microphthalmia-Associated Transcription Factor wt AlleleSYNCI
  • bHLHe32SYNCI
DEFINITION
  • 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.NCISwissProt and Nature. 2005;436:117-22.
DesignNote
  • 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.
code
  • C70585
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 122 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software