HESX1
Encyclopedia
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.
or Pickardt-Fahlbusch syndrome
.
Homeobox
A homeobox is a DNA sequence found within genes that are involved in the regulation of patterns of anatomical development in animals, fungi and plants.- Discovery :...
protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the HESX1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Expression of HEX1
Exonuclease 1
Exonuclease 1 is an enzyme that in humans is encoded by the EXO1 gene.This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity . It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in DNA mismatch repair and...
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 dysplasiaSepto-optic dysplasia
Septo-optic dysplasia , also known as de Morsier syndrome is a congenital malformation syndrome made manifest by hypoplasia of the optic nerve and absence of the septum pellucidum...
or Pickardt-Fahlbusch syndrome
Pickardt syndrome
Pickardt-syndrome denotes a rare form of tertiary hypothyroidism that is caused by interruption of the portal veins connecting hypothalamus and pituitary.It was characterized in 1972 and 1973....
.