- Source: HESX1
Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.
Expression of HEX1 and HESX1 marks the anterior visceral endoderm of the embryo. The AVE is an extra-embryonic tissue, key to the establishment of the anterior-posterior body axis.
Clinical significance
Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia or Pickardt-Fahlbusch syndrome.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
HESX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Kata Kunci Pencarian:
- Daftar gen penyandi protein pada manusia/2
- HESX1
- Septo-optic dysplasia
- Pickardt syndrome
- Joshua Brickman
- Homeobox
- Hypopituitarism
- Receptor (biochemistry)
- Peroxisome proliferator-activated receptor
- Hormone receptor
- NF-κB