HHEX

Full Name: Hematopoietically Expressed Homeobox

Genomic Location: Chromosome 10:92,689,924-92,695,651

Protein Size: 270 amino acids

Function:

Recognises the DNA sequence 5'-ATTAA-3'. Transcriptional repressor. May play a role in hematopoietic differentiation. Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL.

This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation.

Linked SNP(s):

  • rs1111875 is linked to HHEX, it is located approximately 7,500 bases downstream.
  • Population frequencies are approximately 62% for the reference allele (T) and 38% for the alternate allele (C).
  • Studies suggest the C allele is associated with increased endurance capacity while the T allele is associated with an increased risk for obesity that can be mitigated through exercise.
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