| Symbol
| COMT
| contributors: mct/npt/pgu - updated : 05-04-2013
|
| HGNC name
| catechol-O-methyltransferase
|
| HGNC id
| 2228
|
| corresponding disease(s)
|
SCZD4
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
| deletion
|
|
| |
hemizygous deletion in 22q11 microdeletion syndromes (velocardiofacial syndrome [VCFS] or DiGeorge syndrome [DGS]) | |
| Susceptibility
|
potential risk factor for homicidal behavior in schizophrenia to schizophrenia in a French series and bipolar disorders to obesity to cisplatin-induced hearing loss in children |
| Variant & Polymorphism
SNP
, other
| Val158Met involved in risk for schizophrenia and bipolar disorders |
|
The COMT Ex4-76C > G (L136L) polymorphism appears to play a role in large increases in BMI |
|
variant rs9332377, associated to cisplatin-induced hearing loss in children  |
|
val158met polymorphism in the COMT gene contributes significantly to inter-individual differences in neural pain processing: in healthy people |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| miscelleaneous | pain | | |
| inhibition of COMT via serotonin binding contributes to pain hypersensitivity, providing additional strategies for the treatment of clinical pain conditions | | neurology | | | |
| promising target for modulation of cognitive functions and dysfunctions |
| | | |
|
| pregnant mice deficient in catechol-O-methyltransferase (COMT) show a pre-eclampsia-like phenotype resulting from an absence of 2-methoxyoestradiol (2-ME), a natural metabolite of oestradiol that is elevated during the third trimester of normal human pregnancy | |
|