NBAS Antibody

1. NBAS was the only candidate gene mutated in more than one patient. All NBAS mutations were novel and predictedly pathogenic. Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related recurrent acute liver failure) PMID: 28629372
2. The age of the mutation in Yakutia was estimated to be about 804 +/- 140 years. The frequency of heterozygous carriers of mutation G5741-->A (R1914H) in gene NBAS was found, which averaged 13 per 1000 healthy Yakuts PMID: 29369590
3. variants in NBAS, are reported as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. PMID: 27789416
4. A novel compound heterozygous mutations of NBAS (NM_015909.3): c.680A > C (p.His227Pro) were identified in two siblings with acute liver failure. PMID: 28576691
5. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. PMID: 26286438
6. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. PMID: 26073778
7. DHX34 and NBAS act in concert with core nonsense-mediated mRNA decay factors to co-regulate a large number of endogenous RNA targets. PMID: 23828042
8. These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huet anomaly. PMID: 20577004
9. There may be a subset of NB in which enhanced DDX1 and low-NAG expression consequent to DDX1 co-amplification without NAG amplification contributes to susceptibility to intensive therapy. PMID: 17028906
10. Results together suggest that NAG links between p31 and ZW10-RINT-1 and is involved in Golgi-to-ER transport. PMID: 19369418
11. Defects in NAG-ELMO1 is associated with leukemic progression. PMID: 19407829

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HGNC: 15625

OMIM: 608025

KEGG: hsa:51594

STRING: 9606.ENSP00000281513

UniGene: Hs.467759