NAXE
Sign in to saveAlso known as AIBP, YJEFN1, APOA1BP, NAD(P)HX epimerase, PEBEL
Apolipoprotein A-I-binding protein also known as APOA1BP is a protein that in humans is encoded by the APOA1BP gene. Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL-1), a rare, lethal, neurometabolic disorder, is caused by mutation in NAXE gene (APOA1BP being its former name).
Gene data
NAXE- Name
- NAD(P)HX epimerase
- Type
- protein-coding
- Position
- 156,591,743–156,609,507 (+)
- Aliases
- AIBP, APOA1BP, PEBEL, YJEFN1
- Ensembl
- ENSG00000163382
- RefSeq RNA
- NM_144772.3
- RefSeq protein
- NP_658985.2
The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
NAD(P)HX epimerase
- Symbol
- NAXE
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:156,591,738-156,609,507
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 70948
- exact match
- identifiers.org/ncbigene/128240
- genomic start
- 156591756
- genomic end
- 156609507
- cytogenetic location
- 1q22
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- Structure
- Function
- References
Apolipoprotein A-I-binding protein also known as APOA1BP is a protein that in humans is encoded by the APOA1BP gene. Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL-1), a rare, lethal, neurometabolic disorder, is caused by mutation in NAXE gene (APOA1BP being its former name).
== Structure == APOA1BP gene is located on chromosome 1, with its specific location being 1q22. The gene contains 6 exons, 5 introns, and spans 2.5 kb. Expression is ubiquitous across all human tissues, with highest observed in kidney, heart, liver, testis, thyroid gland, adrenal gland. APOA1BP contains Yje_FN domain.