Search on: MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR 
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Descriptor English:   Microphthalmia-Associated Transcription Factor 
Descriptor Spanish:   Factor de Transcripción Asociado a Microftalmía 
Descriptor Portuguese:   Fator de Transcrição Associado à Microftalmia 
Tree Number:   D12.776.260.103.500.500
D12.776.260.108.092.500
D12.776.930.125.500.500
D12.776.930.127.092.500
Definition English:   A basic helix-loop-helix leucine zipper transcription factor that regulates the CELL DIFFERENTIATION and development of a variety of cell types including MELANOCYTES; OSTEOCLASTS; and RETINAL PIGMENT EPITHELIUM. Mutations in MITF protein have been associated with OSTEOPETROSIS and WAARDENBURG'S SYNDROME. 
History Note English:   2006(1993) 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification CT contraindications
DF deficiency DU diagnostic use
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
SE secretion ST standards
SD supply & distribution TU therapeutic use
TO toxicity UL ultrastructure
UR urine  
Record Number:   50944 
Unique Identifier:   D051739 

Occurrence in VHL:
 

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