Search on: SOX9 TRANSCRIPTION FACTOR 
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Descriptor English:   SOX9 Transcription Factor 
Descriptor Spanish:   Factor de Transcripción SOX9 
Descriptor Portuguese:   Fatores de Transcrição SOX9 
Tree Number:   D12.776.260.719.500.500
D12.776.660.235.400.750.500.500
D12.776.664.235.400.750.500.500
D12.776.930.823.500.500
Definition English:   A SOXE transcription factor that plays a critical role in regulating CHONDROGENESIS; OSTEOGENESIS; and male sex determination. Loss of function of the SOX9 transcription factor due to genetic mutations is a cause of CAMPOMELIC DYSPLASIA. 
Entry Combination - descr/qualif English:   SOX9 Transcription Factor/deficiency use Campomelic Dysplasia
 
See Related English:   Pierre Robin Syndrome
 
History Note English:   2009(1995) 
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
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:   53177 
Unique Identifier:   D055758 

Occurrence in VHL:
 

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