PAX7 Chromosome 1

Paired box 7

4 variants 4 Health Risk

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What This Gene Does

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Gene Info

Gene Group

"PRD class homeoboxes and pseudogenes|Paired boxes"

Locus Type

gene with protein product

Location

1p36.13

Ensembl

ENSG00000009709

Associated Conditions (5)

Myopathy

congenital

progressive

with scoliosis

Alveolar rhabdomyosarcoma

Key Variants

RS1392068839

Pathogenic

Myopathy, congenital, progressive

Health Risk

RS1570098248

Pathogenic

Myopathy, congenital, progressive

Health Risk

RS752326328

Pathogenic

Myopathy, congenital, progressive

Health Risk

RS1176071790

Pathogenic/Likely pathogenic

Myopathy, congenital, progressive

Health Risk

All Variants (4)

RSID	Category	Clinical Significance	Conditions
RS1392068839	Health Risk	Pathogenic	Myopathy, congenital, progressive
RS1570098248	Health Risk	Pathogenic	Myopathy, congenital, progressive
RS752326328	Health Risk	Pathogenic	Myopathy, congenital, progressive
RS1176071790	Health Risk	Pathogenic/Likely pathogenic	Myopathy, congenital, progressive