NAD(P)HX Epimerase

Alternative Names

  • NAXE
  • Apolipoprotein A-I-Binding Protein
  • APOA1BP
  • APOA-I-Binding Protein
  • AIBP
  • APOA1-Binding Protein
  • YjeF N-Terminal Domain-Containing Protein 1
  • YJEFN1
  • YjeFN Domain-Containing Protein 1
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OMIM Number

608862

NCBI Gene ID

128240

Uniprot ID

Q8NCW5

Length

2,524 bases

No. of Exons

6

No. of isoforms

2

Protein Name

NAD(P)H-hydrate epimerase

Molecular Mass

31675 Da

Amino Acid Count

288

Genomic Location

chr1:156,591,776-156,594,299

Gene Map Locus
1q22

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_144772.3:c.641T>ATunisiaNC_000001.11:g.156593532T>AUncertain SignificanceEncephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1NG_052542.1:g.6767T>A; NM_144772.3:c.641T>A; NP_658985.2:p.Ile214Asn
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