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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
Telephone Numbers
Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
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Additional Contact Details
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PPT1 / CLN1
palmitoyl-protein thioesterase 1
PPT1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.
| Gene Name: | palmitoyl-protein thioesterase 1 |
| Synonyms: | PPT1, CLN1, Palmitoyl-protein hydrolase 1, Palmitoyl-protein thioesterase, INCL, PPT-1, PPT |
| Target Sequences: | NM_000310 NP_000301.1 P50897 |
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