CFAP300 (cilia and flagella associated protein 300)

2018-11-01  

Identity

HGNC
CFAP300
LOCATION
11q22.1
LOCUSID
85016
ALIAS
C11orf70,CILD38,FBB5

Other Information

Locus ID:

NCBI: 85016
MIM: 618058
HGNC: 28188
Ensembl: ENSG00000137691

Variants:

dbSNP: 85016
ClinVar: 85016
TCGA: ENSG00000137691
COSMIC: CFAP300

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137691ENST00000434758Q9BRQ4
ENSG00000137691ENST00000526781E9PM77
ENSG00000137691ENST00000529204H0YCT8
ENSG00000137691ENST00000534360Q9BRQ4

References

Pubmed IDYearTitleCitations
297276922018C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.12
297276932018Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.12

Citation

Dessen P

CFAP300 (cilia and flagella associated protein 300)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80301/cfap300