Gene Symbol | NBAS |
Entrez Gene ID | 51594 |
Full Name | neuroblastoma amplified sequence |
Synonyms | ILFS2,NAG,SOPH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3); Infantile liver failure syndrome 2, 616483 (3) |