CFAP43 (cilia and flagella associated protein 43)

2014-11-01  

Identity

HGNC
LOCATION
10q25.1
LOCUSID
ALIAS
C10orf79,HYDNP1,SPGF19,WDR96,bA373N18.2

Other Information

Locus ID:

NCBI: 80217
MIM: 617558
HGNC: 26684
Ensembl: ENSG00000197748

Variants:

dbSNP: 80217
ClinVar: 80217
TCGA: ENSG00000197748
COSMIC: CFAP43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197748ENST00000278064Q5TA04
ENSG00000197748ENST00000357060Q8NDM7
ENSG00000197748ENST00000369719Q5TA05
ENSG00000197748ENST00000369720A0A0C4DFU9
ENSG00000197748ENST00000434629H7BZT8
ENSG00000197748ENST00000457071H0Y4U9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
285521952017Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.35
294495512018Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.25
292771462019Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).4
309043542019NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF).4
310040712019Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.4

Citation

Dessen P

CFAP43 (cilia and flagella associated protein 43)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61755/cfap43