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HESX1 HESX homeobox 1

Also known as: ANF; RPX; CPHD5

Summary

This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]

Genomic context

Location:
3p14.3
Sequence:
Chromosome: 3; NC_000003.12 (57197838..57227643, complement)
Total number of exons:
6

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