PAX3

Highest pathogenic variant AF is 0.0000034205107

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000392069

Coding exons

10

Length

99109

Individuals with no LoFs

125694

Homozygous LoFs

0

Heterozygous LoFs

54

Defined

125748

p

0.000215

Function

FUNCTION: Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087). {ECO:0000269|PubMed:16951170, ECO:0000269|PubMed:21965087}.;

Disease

DISEASE: Waardenburg syndrome 1 (WS1) [MIM:193500]: WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients. {ECO:0000269|PubMed:10779847, ECO:0000269|PubMed:12949970, ECO:0000269|PubMed:1303193, ECO:0000269|PubMed:1347148, ECO:0000269|PubMed:1347149, ECO:0000269|PubMed:16971891, ECO:0000269|PubMed:20478267, ECO:0000269|PubMed:21965087, ECO:0000269|PubMed:7825605, ECO:0000269|PubMed:7833953, ECO:0000269|PubMed:7981674, ECO:0000269|PubMed:8447316, ECO:0000269|PubMed:8490648, ECO:0000269|PubMed:8533800, ECO:0000269|PubMed:8589691, ECO:0000269|PubMed:8845842, ECO:0000269|PubMed:9067759, ECO:0000269|PubMed:9452070, ECO:0000269|PubMed:9541113, ECO:0000269|Ref.35}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Waardenburg syndrome 3 (WS3) [MIM:148820]: WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies. {ECO:0000269|PubMed:12949970, ECO:0000269|PubMed:7726174, ECO:0000269|PubMed:8447316, ECO:0000269|Ref.36}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]: Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness. {ECO:0000269|PubMed:8664898}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. {ECO:0000269|PubMed:8275086}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator. {ECO:0000269|PubMed:8275086}.; DISEASE: Note=A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children. {ECO:0000269|PubMed:15313887}.;