Neuroblastoma-Amplified Sequence

Alternative Names

  • NBAS
  • Neuroblastoma-Amplified Gene
  • NAG
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OMIM Number

608025

NCBI Gene ID

51594

Uniprot ID

A2RRP1

Length

394,441 bases

No. of Exons

55

No. of isoforms

2

Protein Name

Neuroblastoma-Amplified Sequence

Molecular Mass

268571 Da

Amino Acid Count

2371

Genomic Location

chr2:15,166,908-15,561,348

Gene Map Locus
2p24.3

Description

The NBAS gene encodes a protein believed to play a role in retrograde vesicle-mediated transport from the Golgi to the endoplasmic reticulum. Mutations in the NBAS gene have been associated with ILFS2, an acute liver failure syndrome manifesting in the first few months of life.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015909.3:c.409C>TLebanonNC_000002.12:g.15539327G>ALikely Pathogenic, Pathogenic, Uncertain SignificancePathogenicInfantile Liver Failure Syndrome 2NG_032964.1:g.27022C>T; NM_015909.3:c.409C>T; NP_056993.2:p.Arg137Trp368085185218416
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