- dhcr-7 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable 7-dehydrocholesterol reductase activity. Predicted to be involved in brassinosteroid biosynthetic process and cholesterol biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in several diseases, including Greenberg dysplasia; Pelger-Huet anomaly; and autoimmune disease (multiple). Is an ortholog of human DHCR7 (7-dehydrocholesterol reductase).
- TMEM147-AS1 [Search on AGR]
Homo sapiens ASSOCIATED WITH genetic disease; Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly; Prostate cancer; INTERACTS WITH acrylamide; aristolochic acid A; bisphenol A
- rg [Search on AGR]
Drosophila melanogaster rugose (rg) encodes a protein involved in synaptic architecture, brain morphology and associative learning.
- Nbas [Search on AGR]
Homo sapiens This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
- KAP104 [Search on AGR]
Saccharomyces cerevisiae Transportin or cytosolic karyopherin beta 2; functions in the rg-nuclear localization signal-mediated nuclear import/reimport of mRNA-binding proteins Nab2p and Hrp1p; regulates asymmetric protein synthesis in daughter cells during mitosis
- LBR [Search on AGR]
Rattus norvegicus Enables nuclear localization sequence binding activity and protein-folding chaperone binding activity. Predicted to be involved in cholesterol biosynthetic process and neutrophil differentiation. Located in nuclear envelope. Part of nuclear pore. Human ortholog(s) of this gene implicated in Greenberg dysplasia; Pelger-Huet anomaly; and primary biliary cholangitis. Orthologous to human LBR (lamin B receptor); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; acetamide; ammonium chloride.