Basic information of HHEX :
| Official Symbol of Gene | HHEX |
| Species | Homo sapiens |
| Entrez Gene ID | 3087 |
| Official Full Name | hematopoietically expressed homeobox |
| Also known as | HEX; PRH; HMPH; PRHX; HOX11L-PEN |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000152804 MIM:604420; AllianceGenome:HGNC:4901 |
| Map Location | 10q23.33 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 154cases/117controls |
Literature information of multiple sclerosis :
| Pubmed ID | 35887298 |
| Year | 2022 |
| Title | Unraveling the Influence of HHEX Risk Polymorphism rs7923837 on Multiple Sclerosis Pathogenesis |
Results of multiple sclerosis :
| Expression | down-regulation |
| Risk type | Disease risk |
| Result | The present study evidenced statistically significant lower HHEX mRNA levels in lymphocytes of MS patients compared to those of controls, showing a similar trend in MS patients to the already described eQTL effect in blood from healthy individuals. Even though no differences were found in protein expression according to HHEX genotypes, statistically significant divergent subcellular distributions of HHEX appeared in patients and controls. The epistatic interaction detected between BCL6 and HHEX MS-risk variants in healthy individuals was absent in patients, indicative of a perturbed reciprocal regulation in the latter. Lymphocytes from MS carriers of the homozygous mutant genotype exhibited a distinctive, more energetic profile, both in resting and activated conditions, and significantly increased glycolytic rates in resting conditions when compared to controls sharing the HHEX genotype. In contrast, significantly higher mitochondrial mass was evidenced in homozygous mutant controls. |
| Mechanism/Pathway | eIF4E-mediated mRNA transport |
