Homo sapiens CLN5 intracellular trafficking protein (CLN5), RefSeqGene - Nucleotide

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The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase. [Science. 2023]
The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase.
Medoh UN, Hims A, Chen JY, Ghoochani A, Nyame K, Dong W, Abu-Remaileh M. Science. 2023 Sep 15; 381(6663):1182-1189. Epub 2023 Sep 14.
Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. [Autophagy. 2023]
Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.
Wang Y, Wang H, Wang C. Autophagy. 2023 Jun; 19(6):1876-1878. Epub 2022 Nov 11.
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. [Sci Adv. 2022]
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.
Wang Y, Cao X, Liu P, Zeng W, Peng R, Shi Q, Feng K, Zhang P, Sun H, Wang C, et al. Sci Adv. 2022 Aug 5; 8(31):eabm5578. Epub 2022 Aug 3.

RefSeq alternative splicing
See 2 reference mRNA sequence splice variants for the CLN5 gene.

Protein
Protein sequence from Nucleotide coding region
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Nucleotide