Английская Википедия:Inositol monophosphatase 3

Материал из Онлайн справочника
Перейти к навигацииПерейти к поиску

Шаблон:Short description Шаблон:Infobox gene Inositol monophosphatase 3 also known as inositol monophosphatase domain-containing protein 1 (IMPAD1) is an enzyme that in humans is encoded by the IMPAD1 gene.[1]

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP).[1]

Clinical significance

Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1.[1]

References

Шаблон:Reflist

Шаблон:Esterases Шаблон:Enzymes Шаблон:Portal bar


Шаблон:Gene-8-stub