PPAN Chromosome 19

Peter pan homolog
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
Small nucleolar RNA protein coding host genes
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000130810
Associated Conditions (1)
Cataplexy and narcolepsy
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1551570 Health Risk association Cataplexy and narcolepsy, Cataplexy and narcolepsy
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