Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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Immunogen sequence: IPSRRHWPVP YKRFDFRPKP DPYCQAKYTF CPTGSPIPVM EGDDDIEVFR LQAPVWEFKY GDLLGHLKIM HDAIGFRSTL TGKNYTMEWY ELFQLGNCTF PHLRPEMDAP FWCNQGAACF FEGIDDVHWK ENGTLVQVAT ISGNMFNQMA KWVKQDNETG IYYETWNVKA SPEKGAETWF DSYDCSKFVL RTFNKLAEFG AEFKNIETNY TRIFLYSGEP TYLGNETSVF GPTGNKTLGL AIKRFYYPFK PHLPTKEFLL SLLQIFDAVI VHKQFYLFYN FEYWFLPMKF PFIKITYEEI PLPIRNKTLS GL; Positive Samples: Mouse heart, Rat heart; Cellular Location: Lysosome
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008].
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Protein Aliases: Bis(monoacylglycero)phosphate synthase CLN5; BMP synthase CLN5; ceroid-lipofuscinosis; Ceroid-lipofuscinosis neuronal protein 5; ceroid-lipofuscinosis neuronal protein 5 homolog; Palmitoyl protein thioesterase CLN5; Protein CLN5; S-depalmitoylase CLN5
Gene Aliases: A730075N08Rik; BMPS; CLN5; NCL
UniProt ID: (Human) O75503, (Mouse) Q3UMW8
Entrez Gene ID: (Human) 1203, (Rat) 306128, (Mouse) 211286
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