KIAA1751 protein, partial [Homo sapiens]

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Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure. [Am J Respir Cell Mol Biol. 2022]
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
Biebach L, Cindrić S, Koenig J, Aprea I, Dougherty GW, Raidt J, Bracht D, Ruppel R, Schreiber J, Hjeij R, et al. Am J Respir Cell Mol Biol. 2022 Sep; 67(3):409-413.
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. [J Hum Genet. 2020]
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
Sha Y, Wei X, Ding L, Ji Z, Mei L, Huang X, Su Z, Wang W, Zhang X, Lin S. J Hum Genet. 2020 Nov; 65(11):961-969. Epub 2020 Jun 18.
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. [Hum Mol Genet. 2022]
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Han JH, Ryan G, Guy A, Liu L, Quinodoz M, Helbling I, Lai-Cheong JE, Genomics England Research Consortium, Barwell J, Folcher M, et al. Hum Mol Genet. 2022 Jun 22; 31(12):1970-1978.

RefSeq protein
See the reference protein sequence for cilia- and flagella-associated protein 74 (NP_001291289.1).

Nucleotide
Nucleotide sequence from coding region
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

KIAA1751 protein, partial [Homo sapiens]
KIAA1751 protein, partial [Homo sapiens]
gi|145337863|gb|AAI39755.1|

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Protein