C75600Level 5
SOX3 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human SRY-Box 3 wild-type allele is located in the vicinity of Xq27.1 and is approximately 3 kb in length. This allele, which encodes transcription factor SOX-3, plays a role in inhibition of neuronal differentiation in the pituitary and hypothalamus. Mutations in this gene result in X-linked mental retardation, and may correlate also with isolated growth hormone deficiency.
**Synonyms:** - SRY (Sex Determining Region Y)-Box 3 wt Allele
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