基因名:
GOLGA8H
产品别名:
GOLGA6L11; GOLGA8H; golgin A8 family member H; golgin A8 family member H; golgin subfamily A member 8H; Golgin subfamily A member 8-like protein 1; golgi autoantigen, golgin subfamily a, 6-like 11; 高尔基体自身蛋白8H;
背景信息:
The Golgi complex plays an essential role in the post-translational modification and sorting of proteins transported from the endoplasmic reticulum (ER). The Golgi stack consists of a distinct cis face, or entry face, and a trans face, or exit face, which are connected via the cis, medial and trans Golgi networks. GOLGA8H (putative golgin subfamily A member 8I) is a 632 amino acid protein that belongs to the GOLGA8 family. Localizing to Golgi apparatus, GOLGA8H may play a role in Golgi structure maintenance. The gene encoding GOLGA8H maps to human chromosome 15, which houses over 700 genes and comprises nearly 3% of the human genome. Angelman syndrome, Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localized genes.