- Vps13B [Search on AGR]
Homo sapiens This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
- Vps13 [Search on AGR]
Saccharomyces cerevisiae Lipid transport protein; involved in vacuolar protein sorting, protein retention in the Golgi, prospore membrane formation and sporulation; required for mitochondrial integrity and ER packaging into autophagosomes during cortical reticulophagy; peripheral membrane protein found at the prospore membrane and at membrane contact sites; contains a PH-like domain; homologous to human CHAC and COH1, involved in Chorea-acanthocytosis and Cohen syndrome, respectively
- Grhl2 [Search on AGR]
Homo sapiens ENCODES an gene that exhibits chromatin DNA binding; DNA-binding transcription activator activity; DNA-binding transcription activator activity, RNA polymerase II-specific; INVOLVED IN bicellular tight junction assembly; cell adhesion; cell junction assembly; ASSOCIATED WITH autosomal dominant nonsyndromic deafness 28; Cohen syndrome; Corneal dystrophy; FOUND IN cell-cell junction; nucleoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2-hydroxypropanoic acid
- Vps13B [Search on AGR]
Rattus norvegicus Predicted to enable phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in several processes, including Golgi reassembly; acrosome assembly; and slow endocytic recycling. Predicted to act upstream of or within several processes, including dentate gyrus development; head morphogenesis; and social behavior. Predicted to be located in Golgi apparatus and bounding membrane of organelle. Human ortholog(s) of this gene implicated in Cohen syndrome. Orthologous to human VPS13B (vacuolar protein sorting 13 homolog B); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene.