CYB5A

Chr 18q22.3

cytochrome b5 type A

Aliases:: MCB5
MANE:: ENST00000340533.9

OMIM: 613218 ↗NCBI: 1528 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary methemoglobinemia
0.52
46,XY disorder of sex development due to isolated 17,20 lyase deficiency
0.37
methemoglobinemia due to deficiency of methemoglobin reductase
0.37
Abnormality of the skeletal system
0.35
skin wound
0.28
Abnormality of the immune system
0.28
cholelithiasis
0.27
sinusitis
0.24
hepatocellular carcinoma
0.09
Isolated anophthalmia - microphthalmia
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytochrome b5

Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases