Harmonizome 3.0

Camptodactyly 1

short stature homeobox 2

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

short stature homeobox

This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

stature quantitative trait locus 8

stature quantitative trait locus 4

stature quantitative trait locus 5

stature quantitative trait locus 2

stature quantitative trait locus 3

stature quantitative trait locus 6

stature quantitative trait locus 7

Stature QTL 23

Stature QTL 20

Stature QTL 17

Stature QTL 15

Stature QTL 13

Stature QTL 16

Stature QTL 14

Stature QTL 12

Stature QTL 10

Stature QTL 11

Stature QTL 18

Stature QTL 19

Mental retardation, X-linked, with short stature

Stature QTL 24

Stature QTL 21

Stature QTL 22