PXMP2
Description
The PXMP2 (peroxisomal membrane protein 2) is a protein-coding gene located on chromosome 12.
PXMP2 is also known as MPV17L3, PMP22.
Associated Diseases
- attenuated familial adenomatous polyposis
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- facial dysmorphism-immunodeficiency-livedo-short stature syndrome
- neonatal intrahepatic cholestasis due to citrin deficiency
- renal cysts and diabetes syndrome
- xanthinuria type II
- karyomegalic interstitial nephritis
- xanthinuria type I
- classic galactosemia
- hereditary xanthinuria
- Dent disease type 2
- citrullinemia type II
- cholestasis, progressive familial intrahepatic, 12
