Target intelligence / Profile preview

Transcription factor RFX4 (RFX4)

Target
RFX4
Molecular classification
Transcription factor, Winged-helix DNA-binding domain protein
01

Overview

Transcription factor RFX4 is a protein encoded by the RFX4 gene, belonging to the regulatory factor X gene family and characterized by a winged-helix DNA-binding domain[1][3][2][6]. RFX4 is mainly involved in the transcriptional regulation of genes important for early brain and neural tube development and may influence neural tube ciliogenesis and Shh signaling. Several alternative splice isoforms exist, with tissue-specific expression in the central nervous system and testis. RFX4 interacts with other family members (RFX2, RFX3) and can act as a repressor or activator at target promoters, depending on cellular context. Dysfunction or mutation of RFX4 is implicated in rare developmental disorders such as Dandy-Walker syndrome and certain brain tumors like melanotic medulloblastoma[1][3][4][6].

Other names
Regulatory factor X4Testis development protein NYD-SP10RFX4NYD-SP10Winged-helix transcription factor RFX4Regulatory factor X, 4 (influences HLA class II expression)
02

Mechanism of action

Not applicable (no drugs currently known to target RFX4 directly)

03

Biological functions

Transcriptional regulation (DNA-binding transcription factor activity)Early brain developmentNeural tube ciliogenesisModulates regional Shh (Sonic hedgehog) signalingMay act as transcriptional repressor or activator (context dependent)
04

Disease associations

Melanotic medulloblastomaDandy-Walker syndromePotential roles in neurodevelopmental disordersOther (less well-characterized roles in human disease)

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