 | | VARIANT: 8924v1 | |
| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 [KO: K10595]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00768 | Autosomal recessive intellectual developmental disorder |
|
|---|
| Reference |
|
|---|
| Authors |
Harlalka GV, Baple EL, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH |
|---|
| Title |
Mutation of HERC2 causes developmental delay with Angelman-like features. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Danielsen JR, Povlsen LK, Villumsen BH, Streicher W, Nilsson J, Wikstrom M, Bekker-Jensen S, Mailand N |
|---|
| Title |
DNA damage-inducible SUMOylation of HERC2 promotes RNF8 binding via a novel SUMO-binding Zinc finger. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Elpidorou M, Best S, Poulter JA, Hartill V, Hobson E, Sheridan E, Johnson CA |
|---|
| Title |
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
|
|