Patatin Like Phospholipase Domain Containing Protein 4 (PNPLA4)
Английские синонимы
GS2
PNPLA4 encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y.DNA sequencing of a GS2 cDNA clone demonstrated an open reading frame for a basic protein of 253 amino acid residues and an isoelectric point of 9.8. A polymorphic CT dinucleotide repeat was found in the 3-prime untranslated region. The GS2 gene was expressed in all human tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas, and spleen. Several GS2 transcripts, ranging in size from 1.1 to 5.8 kb, were found among different tissues, suggesting tissue-specific processing of the GS2 transcript.
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