intraflagellar transport protein 43 homolog isoform 2 [Homo sapiens]

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A mutation in IFT43 causes non-syndromic recessive retinal degeneration. [Hum Mol Genet. 2017]
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, et al. Hum Mol Genet. 2017 Dec 1; 26(23):4741-4751.
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. [Cilia. 2017]
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, et al. Cilia. 2017; 6:7. Epub 2017 Apr 10.
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. [Am J Hum Genet. 2010]
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, et al. Am J Hum Genet. 2010 Sep 10; 87(3):418-23.

RefSeq genomic sequence
See the genomic reference sequence for the IFT43 gene (NG_031957.1).
RefSeq mRNA
See reference mRNA sequence for the IFT43 gene (NM_001102564.3).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the IFT43 gene.

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NP_001096034 [Domain Mapping of Disease Mut...]
NP_001096034
Domain Mapping of Disease Mutations
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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Protein