TMEM212
Description
The TMEM212 (transmembrane protein 212) is a protein-coding gene located on chromosome 3.
TMEM212 is a human gene located on chromosome 3, spanning from position 171,561,140 to 171,577,108. It consists of four exons and encodes a protein with five transmembrane domains. The protein is present in the plasma membrane and endoplasmic reticulum. TMEM212 has counterparts in vertebrates but not in invertebrates. It has been linked to sporadic Parkinson's disease, facial processing, and a higher prevalence of adiposity in African Americans. The gene has two isoforms, differing in their last exon.
TMEM212 is linked to sporadic Parkinson's disease, facial recognition, and a higher prevalence of adiposity in African Americans.
TMEM212 is also known as -.
Associated Diseases
- primary familial polycythemia due to EPO receptor mutation
- dehydrated hereditary stomatocytosis
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- thrombocythemia 2
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- erythrocytosis, familial, 6
- erythrocytosis, familial, 3
- familial isolated congenital asplenia
- cryohydrocytosis
- Rh deficiency syndrome
- elliptocytosis 2
