Symbol
| ATP10A
| contributors: mct - updated : 29-06-2021
|
HGNC name
| ATPase, Class V, type 10A
|
HGNC id
| 13542
|
corresponding disease(s)
|
AS
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
| deletion
|  
|  
|
included in PWS/AS typically deleted region, maternally expressed gene | constitutional
|  
|  
| --other
|  
|
dysregulation contributes to some of the obesity-related complications in PWS and in individuals with 15q11-q13 duplication | constitutional
|  
|  
| --over
|  
|
in Hereditary spastic paraplegias (HSPs) with intellectual disability (ID) | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| deficiency of Atp10a and Atp10d leads to insulin resistance and obesity in mice |