TRHDE
Thyrotropin Releasing Hormone Degrading Enzyme
Gene Information Card
| Symbol | TRHDE |
|---|---|
| Full Name | Thyrotropin Releasing Hormone Degrading Enzyme |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.1 |
| NCBI Gene ID | 29953 ncbi.nlm.nih.gov/gene/29953 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9UKU6 |
| OMIM ID | 609363 |
| HGNC ID | 30764 |
| Aliases | PAP-II, TRH-DE, TRH degrading enzyme |
Description
TRHDE encodes a metallopeptidase that specifically degrades thyrotropin-releasing hormone (TRH), regulating TRH levels in the central nervous system and peripheral tissues. The enzyme is a member of the M1 family of zinc metallopeptidases and is involved in neuropeptide metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thyroid hormone resistance | Altered TRH degradation may disrupt feedback regulation | PMID: 12399236 |
| Major depressive disorder | TRH dysregulation linked to mood disorders | PMID: 15680937 |
| Epilepsy | TRH degradation affects seizure susceptibility in animal models | PMID: 10987811 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Pituitary | 8.1 | High |
| Testis | 3.4 | Low |
| Kidney | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 4.8 | Neuronal cell line |
| HEK293 | 1.2 | Low expression |
| HepG2 | 0.9 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Reduced enzyme activity |
| c.1523G>A (p.Arg508Gln) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
c.1045C>T (p.Arg349Trp) reduces catalytic activity
Gain of Function (GOF)
None reported
Dominant Negative (DN)
None reported
View complete mutation data：
Gene Ontology (GO)
| • metallopeptidase activity | • zinc ion binding |
| • proteolysis | • neuropeptide processing |
| • extracellular space |
Pathways
• Neuropeptide degradation
• TRH signaling
Protein Summary
TRHDE is a 1024-amino acid zinc-dependent metallopeptidase that cleaves the pyroglutamyl-histidyl-prolineamide bond of TRH. It is expressed predominantly in brain and pituitary, where it terminates TRH signaling. The enzyme is localized to the cell membrane and secreted into the extracellular space.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRHDE Knockout HEK293 Cell Line | EDJ-KQ9099 | Human | 29953 | Details Get a Quote |
| TRHDE Knockout HCT 116 Cell Line | EDJ-KQ35598 | Human | 29953 | Details Get a Quote |
| TRHDE Knockout HeLa Cell Line | EDJ-KQ56131 | Human | 29953 | Details Get a Quote |
| TRHDE Knockout A-549 Cell Line | EDJ-KQ64617 | Human | 29953 | Details Get a Quote |
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