DNAAF6 (dynein axonemal assembly factor 6)

2014-11-01  

Identity

HGNC
LOCATION
Xq22.3
LOCUSID
ALIAS
CILD36,CXorf41,NYSAR97,PIH1D3,TWISTER

Other Information

Locus ID:

NCBI: 139212
MIM: 300933
HGNC: 28570
Ensembl: ENSG00000080572

Variants:

dbSNP: 139212
ClinVar: 139212
TCGA: ENSG00000080572
COSMIC: DNAAF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080572ENST00000336387Q9NQM4
ENSG00000080572ENST00000372453Q9NQM4
ENSG00000080572ENST00000535523Q9NQM4

References

Pubmed IDYearTitleCitations
281767942017X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.39
280416442017Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.36

Citation

Dessen P

DNAAF6 (dynein axonemal assembly factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71915/dnaaf6-(dynein-axonemal-assembly-factor-6)