Cytochrome b5 Reductase 3

Alternative Names

  • CYB5R3
  • B5R
  • NADH-Diaphorase 1
  • DIA1
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OMIM Number

613213

NCBI Gene ID

1727

Uniprot ID

P00387

Length

31,729 bases

No. of Exons

12

No. of isoforms

3

Protein Name

NADH-cytochrome b5 reductase 3

Molecular Mass

34235 Da

Amino Acid Count

301

Genomic Location

chr22:42,617,840-42,649,568

Gene Map Locus
22q13.2

Description

The CYB5R3 gene codes for both the membrane bound and the soluble forms of the cytb5r protein. The membrane-bound form is involved in the desaturationa dn elongation of fatty acids, while the soluble form is plays a major role in methemoglobin reduction.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_007326.4:c.394+8G>CAlgeriac.394+8G>CPathogenicPathogenicMethemoglobinemia due to Deficiency of Methemoglobin ReductaseNG_012194.1:g.26256G>C ; NM_007326.4:c.394+8G>C200872504239
NM_007326.4:c.813_815delinsAALebanonNC_000022.11:g.42619795_42619797delinsTTPathogenicMethemoglobinemia due to Deficiency of Methemoglobin ReductaseNM_007326.4:c.813_815delinsAA; NP_015565.1:p.Thr272ArgfsTer54
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