TMEM199 Antibody

TMEM199 encodes a protein homologous to the yeast V-ATPase assembly factor Vma12 and appears to be involved in Golgi homeostasis. The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. By genomic sequence analysis, the TMEM199 gene is mapped to chromosome 17q11.1.