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 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 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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