rabenosyn-5 [Homo sapiens]

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RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder. [Hum Mol Genet. 2022]
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Paul F, Ng C, Mohamad Sahari UB, Nafissi S, Nilipoor Y, Tavasoli AR, Bonnard C, Wong PM, Nabavizadeh N, Altunoğlu U, et al. Hum Mol Genet. 2022 Oct 28; 31(21):3729-3740.
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. [Blood. 2018]
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, et al. Blood. 2018 Aug 9; 132(6):658-662. Epub 2018 May 21.
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking. [Orphanet J Rare Dis. 2014]
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Stockler S, Corvera S, Lambright D, Fogarty K, Nosova E, Leonard D, Steinfeld R, Ackerley C, Shyr C, Au N, et al. Orphanet J Rare Dis. 2014 Sep 20; 9:141. Epub 2014 Sep 20.

RefSeq genomic sequence
See the genomic reference sequence for the RBSN gene (NG_041773.1).
RefSeq mRNA
See reference mRNA sequence for the RBSN gene (NM_001302378.2).
RefSeq protein isoforms
See 18 reference sequence protein isoforms for the RBSN gene.

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GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
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reagents
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