QuickView for Ppt1 (gene)

Gene Symbol:

PPT1 Homo sapiens

Full name:

palmitoyl-protein thioesterase 1

Synonyms:

CLN1, INCL, PPT, palmitoyl-protein thioesterase 1, ceroid-palmitoyl-palmitoyl-protein thioesterase 1, palmitoyl-protein hydrolase 1

Genomic Location:

Chr 1: 40310969-40335555

Description:

The protein encoded by this gene 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 neuron...

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The protein encoded by this gene 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TCANNTGAY_SREBP1_01

Cytogenetic Map:

1p34.2

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