Search results for DHH

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Reaction (3 results from a total of 3)

Identifier: R-HSA-9692146
Species: Homo sapiens
Compartment: nucleoplasm, extracellular region
The DHH gene is transcribed to yield mRNA and the mRNA is translated to yield DHH protein (Rahmoun et al. 2017 and inferred from mouse homologs). Transcription of DHH is directly activated by SOX9 (inferred from mouse homologs). DHH is secreted from pre-Sertoli cells (Rahmoun et al. 2017 and inferred from mouse homologs) and acts via the PTCH1 receptor to regulate testis development.
Identifier: R-HSA-9692150
Species: Homo sapiens
Compartment: nucleoplasm
SOX9 binds the promoter of the DHH gene (inferred from mouse homologs).
Identifier: R-HSA-5483229
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
A G287V loss-of-function mutation in HHAT was identified in a rare case of Syndromic 46, XY Disorder of Sex Development, which results in testis dysgenesis. The mutation does not affect the stability, localization or expression level of the HHAT when expressed from a plasmid in COS-1 cells, but the mutant protein is unable to palmitoylate SHH or DHH in an in vitro assay and expression of the HHAT loss-of-function gene in mice recapitulates the phenotypes seen in the human patient (Callier et al, 2014). These findings support a role for DHH signaling in testis development, consistent with earlier reports (Umehara et al, 2000; Canto et al, 2004; Canto et al, 2005; Das et al, 2011).
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