Hedgehog Homolog, Desert (DHH) ELISA Kit for Goat

This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]

DHH: Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development. Defects in DHH may be the cause of partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD). PGD is characterized by the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity. Defects in DHH may be the cause of complete pure gonadal dysgenesis 46,XY type (GDXYM); also known as male- limited gonadal dysgenesis 46,XY. GDXYM is a type of hypogonadism in which no functional gonads are present to induce puberty in an externally female person whose karyotype is then found to be XY. The gonads are found to be non-functional streaks. Belongs to the hedgehog family.

Protein type: Secreted, signal peptide; Secreted; Cell development/differentiation

Chromosomal Location of Human Ortholog: 12q13.1

Cellular Component: extracellular space; plasma membrane

Molecular Function: peptidase activity; protein binding; zinc ion binding; patched binding; calcium ion binding

Biological Process: myelination; Leydig cell differentiation; cell-cell signaling; male sex determination; regulation of steroid biosynthetic process; proteolysis; spermatid development; response to estradiol stimulus

Disease: 46,xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy; 46,xy Sex Reversal 7