full name
cytochrome b5 reductase 3

synonyms
B5R, DIA1, CYB5R3, ENSG00000100243

HGNC
HGNC:2873

Entrez Gene
Gene:1727

ENSEMBL
ENSG00000100243

location
chr: 22
start: 43013846
stop: 43045405
strand: -

OMIM
OMIM:613213: CYB5R3 (Autosomal recessive inheritance)
OMIM:250800: Methemoglobinemia, type I
OMIM:250800: Methemoglobinemia, type II

transcripts
NM_000398.6
NM_007326.4
NM_001171661.1
NM_001129819.2
NM_001171660.1

pathways
Amino sugar and nucleotide sugar metabolism [NCBI:82979] [KEGG:hsa00520] [PUBMED:16995900] [PUBMED:15134748] [PUBMED:11479276] [PUBMED:10984043] [PUBMED:16237198] [PUBMED:18199744] [PUBMED:15809294] [PUBMED:8071227] [PUBMED:14450717] [PUBMED:2793832] [PUBMED:16277754] [PUBMED:10931327] [PUBMED:17827295] [PUBMED:15695810] [PUBMED:18304669] [PUBMED:9811644] [PUBMED:11447132] [PUBMED:8444803] [PUBMED:12562791] [PUBMED:17190829] [PUBMED:17085508] [PUBMED:15489439] [PUBMED:16452451]
Biological oxidations [NCBI:1270189] [REACTOME:R-HSA-211859]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Phase 1 - Functionalization of compounds [NCBI:1270190] [REACTOME:R-HSA-211945] [PUBMED:12369887] [PUBMED:17125408] [PUBMED:16584116]
Vitamin C (ascorbate) metabolism [NCBI:1270146] [REACTOME:R-HSA-196836] [PUBMED:17222174]