cilia- and flagella-associated protein 57 isoform a [Homo sapiens]

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Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. [PLoS Genet. 2020]
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, et al. PLoS Genet. 2020 Aug; 16(8):e1008691. Epub 2020 Aug 7.
Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. [JCI Insight. 2023]
Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
Ma A, Zhou J, Ali H, Abbas T, Ali I, Muhammad Z, Dil S, Chen J, Huang X, Ma H, et al. JCI Insight. 2023 Feb 8; 8(3). Epub 2023 Feb 8.
Transcriptional targeting in the airway using novel gene regulatory elements. [Am J Respir Cell Mol Biol. 2012]
Transcriptional targeting in the airway using novel gene regulatory elements.
Burnight ER, Wang G, McCray PB Jr, Sinn PL. Am J Respir Cell Mol Biol. 2012 Aug; 47(2):227-33. Epub 2012 Mar 23.

RefSeq genomic sequence
See the genomic reference sequence for the CFAP57 gene (NG_028079.2).
RefSeq mRNA
See reference mRNA sequence for the CFAP57 gene (NM_001195831.3).
RefSeq protein isoforms
See 29 reference sequence protein isoforms for the CFAP57 gene.

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Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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