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Target intelligence / Profile preview
Transcription factor Sp8 (SP8)
- Target
- SP8
- Molecular classification
- Transcription factor, Zinc-finger protein, Sp/KLF family
01
Overview
Transcription factor Sp8 (SP8) is a zinc-finger transcription factor in the Sp/KLF family. It is essential for proper limb development by regulating the expression of FGF8 in the apical ectodermal ridge (AER), a key signaling center during embryogenesis. SP8 is involved in early limb outgrowth, and its dysfunction leads to severe developmental defects such as exencephaly in animal models. In humans, pathogenic variants are associated with intellectual developmental disorder and may contribute to certain neurodevelopmental or developmental diseases. There are no current drugs, biomarker roles, or therapeutic targeting described for SP8 in the available literature.
- Other names
- specificity protein 8SP8BTD transcription factorbuttonheadSp8 transcription factor
02
Biological functions
Limb developmentRegulation of transcription by RNA polymerase IIPositive regulation of FGF8 expressionEmbryonic limb morphogenesisSequence-specific double-stranded DNA binding
03
Disease associations
Intellectual developmental disorder (autosomal recessive 43)Parkinson disease 17 (limited evidence)Developmental disorders (severe exencephaly in animal models)Other developmental abnormalities
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