PAX8

Full Name: Paired Box 8

Genomic Location: Chromosome 2:113,215,997-113,278,950

Protein Size: 450 amino acids

Function:

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas.

Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

Linked SNP(s):

  • rs62158170 is linked to PAX8, it is located approximately 47,000 bases downstream.
  • Population frequencies are approximately 82% for the reference allele (A) and 18% for the alternate allele (G).
  • Studies suggest the A allele is associated with reduced sleep duration.

  • rs62158211 is linked to PAX8, it is located approximately 70,000 bases downstream.
  • Population frequencies are approximately 82% for the reference allele (G) and 18% for the alternate allele (T).
  • Studies suggest the G allele is associated with reduced sleep duration.
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