RecName: Full=Ubiquitin-associated protein 1; Short=UBAP-1; AltName: F - Protein

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A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia. [Mol Genet Genomic Med. 2022]
A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.
Wei Q, Wang PS, Dong HL, Luo WJ, Wu ZY, Li HF. Mol Genet Genomic Med. 2022 May; 10(5):e1927. Epub 2022 Mar 29.
Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia. [PLoS One. 2021]
Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.
Bian X, Cheng G, Sun X, Liu H, Zhang X, Han Y, Li B, Li N. PLoS One. 2021; 16(6):e0253871. Epub 2021 Jun 30.
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. [Eur J Hum Genet. 2020]
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris T, Smedley D, Cipriani V, Sheikh I, Athanasiou-Fragkouli A, Chinnery P, Morris H, Real R, Harrison V, Reid E, et al. Eur J Hum Genet. 2020 Dec; 28(12):1763-1768. Epub 2020 Sep 15.

RefSeq protein isoforms
See 14 reference sequence protein isoforms for the UBAP1 gene.

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Q9NZ09 [Domain Mapping of Disease Mut...]
Q9NZ09
Domain Mapping of Disease Mutations
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Protein