Target intelligence / Profile preview

Paired box protein Pax-7 (PAX7)

Target
PAX7
Molecular classification
Transcription factor, Paired box (PAX) family, Homeodomain protein
01

Overview

Paired box protein Pax-7 (PAX7) is a transcription factor belonging to the paired box gene family, containing a paired domain, homeodomain, and octapeptide. It is essential for the regulation of muscle stem cell (satellite cell) proliferation and differentiation during myogenesis, as well as neural crest development. PAX7 maintains the stem cell state of satellite cells, preventing premature differentiation, and regulates the expression of critical myogenic genes such as ID2, ID3, and CXCR4. PAX7 is a biomarker for satellite cells and a rare subset of spermatogonial stem cells. Loss or mutation of PAX7 causes developmental defects, and oncogenic gene fusions such as PAX7-FOXO1 are strongly associated with alveolar rhabdomyosarcoma. No direct-acting drugs on PAX7 are currently known, but its expression and fusion partners serve as important diagnostic and prognostic markers in pediatric soft tissue cancers[1][2][3][5].

Other names
HUP1HuP1CMYO19CMYP19MYOSCOPAX7BRMS2PAX7 transcriptional factorpaired box homeotic gene 7paired domain gene 7
02

Biological functions

Regulation of muscle stem cell (satellite cell) proliferationMyogenesis (muscle development and regeneration)Neural crest developmentMarker for certain spermatogonial stem cellsRegulation of downstream myogenic genes (e.g., ID2, ID3, CXCR4)Maintenance of stem cell status/prevention of premature differentiation
03

Disease associations

Cancer (notably alveolar rhabdomyosarcoma)Congenital myopathy (e.g., Congenital Myopathy 19)Developmental malformations (maxilla and nasal structures)Potential tumor suppressor
04

Safety considerations

Potential for developmental side effects if targeted or modulated, given key roles in developmentAlterations/mutations linked to cancer; gene fusions (e.g., PAX7-FOXO1) are oncogenic
05

Biomarkers

PAX7 expression as a marker of skeletal muscle differentiation in rhabdomyosarcoma (especially embryonal subtype)Biomarker for muscle satellite cells and a subset of spermatogonial stem cells

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