UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
P P- P0 P1 P2 P3 P4 P5 P6 P7 P8 P9 PA PB PC PD PE PF PG PH PI PK PL PM PN PO PP PQ PR PS PT PU PV PW PX PY
PA PA- PAA PAC PAD PAF PAG PAH PAI PAK PAL PAM PAN PAP PAR PAS PAT PAU PAV PAW PAX PAY PAZ

Paired Box Homeotic Gene 3

[Paired Box Protein Pax-3, encoded by the PAX3 gene, is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. (from LocusLink) ( NCI )]
UMLS (NCI) C1335293
Paired Box Protein Pax-3
Paired Domain Gene 3
Paired Domain Gene HuP2
PAX3
PAX3/FKHR Fusion Gene
 
Amino Acid, Peptide, or Protein
Biologically Active Substance

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