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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.
Gene References into Functions
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
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
variants in NBAS, are reported as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. PMID: 27789416
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
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. PMID: 26286438
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. PMID: 26073778
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
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
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
Results together suggest that NAG links between p31 and ZW10-RINT-1 and is involved in Golgi-to-ER transport. PMID: 19369418
Defects in NAG-ELMO1 is associated with leukemic progression. PMID: 19407829
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Involvement in disease
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH); Infantile liver failure syndrome 2 (ILFS2)
Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-myc in some neuroblas