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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].
⚠WARNING: This product can expose you to chemicals including mercury, which is known to the State of California to cause birth defects or other reproductive harm. For more information go to www.P65Warnings.ca.gov.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: A730075N08Rik; BMPS; CLN5; NCL
UniProt ID: (Human) O75503, (Mouse) Q3UMW8
Entrez Gene ID: (Human) 1203, (Rat) 306128, (Mouse) 211286