CYBC1 (cytochrome b-245 chaperone 1)

2018-11-01  

Identity

HGNC
CYBC1
LOCATION
17q25.3
LOCUSID
79415
ALIAS
C17orf62,CGD5,Eros

Other Information

Locus ID:

NCBI: 79415
MIM: 618334
HGNC: 28672
Ensembl: ENSG00000178927

Variants:

dbSNP: 79415
ClinVar: 79415
TCGA: ENSG00000178927
COSMIC: CYBC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178927ENST00000306645Q9BQA9
ENSG00000178927ENST00000306645A0A024R8W9
ENSG00000178927ENST00000342572H0Y2X1
ENSG00000178927ENST00000434650Q9BQA9
ENSG00000178927ENST00000437807Q9BQA9
ENSG00000178927ENST00000437807A0A024R8W9
ENSG00000178927ENST00000577436Q9BQA9
ENSG00000178927ENST00000577471J3QLB7
ENSG00000178927ENST00000577696J3QKS6
ENSG00000178927ENST00000577732Q9BQA9
ENSG00000178927ENST00000577732A0A024R8W9
ENSG00000178927ENST00000577834J3QRZ2
ENSG00000178927ENST00000577888J3KSB6
ENSG00000178927ENST00000578913J3QRG5
ENSG00000178927ENST00000578919Q9BQA9
ENSG00000178927ENST00000578919A0A024R8W9
ENSG00000178927ENST00000579751J3KTF4
ENSG00000178927ENST00000580560H0Y2X1
ENSG00000178927ENST00000581196H0Y2X1
ENSG00000178927ENST00000582438J3QQQ4
ENSG00000178927ENST00000582545J3QS53
ENSG00000178927ENST00000582725J3QKZ6
ENSG00000178927ENST00000583617J3KSJ5
ENSG00000178927ENST00000584024J3KS78
ENSG00000178927ENST00000584408J3KTI1
ENSG00000178927ENST00000584503H0Y2X1
ENSG00000178927ENST00000584891A0A0U1RQN8
ENSG00000178927ENST00000585064Q9BQA9
ENSG00000178927ENST00000585064A0A024R8W9
ENSG00000178927ENST00000585080Q9BQA9
ENSG00000178927ENST00000585080A0A024R8W9

References

Pubmed IDYearTitleCitations
303615062018A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.12
303127042019EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.9

Citation

Dessen P

CYBC1 (cytochrome b-245 chaperone 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80495/cybc1