PAX7

Chr 1p36.13

paired box 7

Aliases:: Hup1
MANE:: ENST00000420770.7

OMIM: 167410 ↗NCBI: 5081 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Familial rhabdomyosarcoma
Other - please specifiy in evaluation comments
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility
Other - please specifiy in evaluation comments
Sarcoma susceptibility
Other - please specifiy in evaluation comments

Disease associations (Open Targets)

myopathy, congenital, progressive, with scoliosis
0.72
alveolar rhabdomyosarcoma
0.50
cleft lip
0.49
cleft palate
0.41
orofacial cleft
0.39
rhabdomyosarcoma
0.38
embryonal rhabdomyosarcoma
0.38
desmoplastic small round cell tumor
0.37
spindle cell rhabdomyosarcoma
0.37
lymphoid neoplasm
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Paired box protein Pax-7

Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration