cilia- and flagella-associated protein 43 [Homo sapiens]

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Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families. [Asian J Androl. 2021]
Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.
Khan I, Shah B, Dil S, Ullah N, Zhou JT, Zhao DR, Zhang YW, Jiang XH, Khan R, Khan A, et al. Asian J Androl. 2021 Nov-Dec; 23(6):627-632.
Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella. [Andrologia. 2020]
Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella.
Li L, Feng F, Wang Y, Guo J, Yue W. Andrologia. 2020 Jul; 52(6):e13575. Epub 2020 Mar 24.
Familial normal pressure hydrocephalus (NPH) with an autosomal-dominant inheritance: a novel subgroup of NPH. [J Neurol Sci. 2011]
Familial normal pressure hydrocephalus (NPH) with an autosomal-dominant inheritance: a novel subgroup of NPH.
Takahashi Y, Kawanami T, Nagasawa H, Iseki C, Hanyu H, Kato T. J Neurol Sci. 2011 Sep 15; 308(1-2):149-51. Epub 2011 Jun 24.

RefSeq genomic sequence
See the genomic reference sequence for the CFAP43 gene (NG_051581.1).
RefSeq mRNA
See reference mRNA sequence for the CFAP43 gene (NM_025145.7).

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SNP
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NP_079421 [Domain Mapping of Disease Mut...]
NP_079421
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

cilia- and flagella-associated protein 43 [Homo sapiens]
cilia- and flagella-associated protein 43 [Homo sapiens]
gi|94681049|ref|NP_079421.5|

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