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NBAS / NAG 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.
Gene Name: | neuroblastoma amplified sequence |
Synonyms: | NBAS, NAG, NAG/BC035112 fusion, NAG/FAM49A fusion, SOPH |
Target Sequences: | NM_015909 NP_056993.2 A2RRP1 |
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