dhcr-7

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

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

Nbas

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]

LBR

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.