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]
Involved in Golgi-to-endoplasmic reticulum (ER) retrograde tranport; 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).
NAG/BC035112 fusion; NAG/FAM49A fusion; NBAS; Neuroblastoma-amplified gene protein; Neuroblastoma-amplified sequence