Aliases for NBAS Gene
External Ids for NBAS Gene
Previous GeneCards Identifiers for NBAS Gene
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]
GeneCards Summary for NBAS Gene
NBAS (NBAS Subunit Of NRZ Tethering Complex) is a Protein Coding gene. Diseases associated with NBAS include Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly and Infantile Liver Failure Syndrome 2. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport.
UniProtKB/Swiss-Prot Summary for NBAS Gene
Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).