Alt. symbols: NAG

Approved name: NBAS subunit of NRZ tethering complex
Alt. names: neuroblastoma amplified sequence

Location: 2p24.3: 15166916 - 15561340 (-)
Gene type: protein_coding, 20 transcripts.

Scores: LoFtool: 0.944000 | pLI: 0.00000000 | LOEUF: 0.777

HGNC: 15625

NCBI: 51594, RefSeq: NG_032964.1

Ensembl: ENSG00000151779.14

LRG_ | Status: none

OMIM: 608025

Expression | ProteinAtlas

NBAS encodes a protein, originally identified in neuroblastoma cells, that is thought to function as a component of the Syntaxin 18 or NRZ tethering complex, which plays a role in Golgi-to-ER retrograde transport via SNARE assembly at the ER, and in nonsense-mediated mRNA decay (NMD) (PMID: 19369418, 28533900). NBAS is highly expressed in cells of the connective tissues, eye, brain, and hematopoietic system (PMID: 33042920).

Biallelic frameshift, nonsense, missense, and splice site variants, as well as synonymous, deep intronic, and in-frame deletions, have been associated with 2 autosomal recessive conditions: Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome) [OMIM: 614800] and Infantile liver failure syndrome-2 (ILFS2) [OMIM: 616483]. Of note, Maksimova et al. (2010) identified a likely Yakut founder mutation (R1914H) that segregated with disease and was found in the normal Yakut populati on with minor allele frequency 0.49% (PMID: 20577004). Though initially associated with either a predominant skeletal dysplasia or liver disease, expansion of the phenotypic spectrum for both disorders has suggested that they may show more overlap than previously appreciated, with both potentially featuring broad multi-system involvement, including but not limited to connective tissue/musculoskeletal, hepatic, neurodevelopmental, hematopoietic, immunologic and endocrine findings in addition to optic atrophy, retinal dystrophy, lipodystrophy, growth failure, and an overall progeroid gestalt (PMID: 26286438, 27789416, 29262476, 30825388, 31015584, 31507590, 32297715, 33042920). One hallmark is recurrent fever-triggered episodes of dehydration, elevated transaminases, and vomiting, often leading to acute liver failure. In terms of immunophenotype, these patients most commonly have combined immunodeficiency characterized by hypogammaglobulinemia with low levels of T and NK cells and often very low B cell levels, associated with increased susceptibility to recurrent infections. [Load More]