C97725Level 6
PHOX2B wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human PHOX2B wild-type allele is located in the vicinity of 4p12 and is approximately 5 kb in length. This allele, which encodes paired mesoderm homeobox protein 2B, is involved in the modulation of gene expression. Mutation of the gene is associated with both congenital central hypoventilation syndrome and susceptibility to neuroblastoma type 2.
**Synonyms:** - NBLST2 - NBPhox - Neuroblastoma Paired-Type Homeobox Gene - PMX2B - Paired Mesoderm Homeobox 2b Gene - Paired-Like Homeobox 2b wt Allele - Phox2b
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Cross-system equivalences0
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