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Gene Review:

PITPNA - phosphatidylinositol transfer protein, alpha

Homo sapiens

Synonyms: HEL-S-36, PI-TP-alpha, PI-TPalpha, PITPN, Phosphatidylinositol transfer protein alpha isoform, ...

Dickeson, S.K. et al., Fitzgibbon, J. et al.

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Disease relevance of PITPNA

In view of the possible involvement of the PITPN locus in the etiology of retinal disease, the gene has been mapped to human chromosome 17p13.3 and mouse Chromosome 11 [1].

High impact information on PITPNA

Phosphatidylinositol (PtdIns) transfer protein (PtdInsTP) is a phospholipid transfer protein that has been detected in all mammalian tissues examined [2].
A rat cDNA probe was used to isolate clones from a lambda gt11 human testis cDNA library which encoded full-length human PtdInsTP [2].

References

Localization of the gene encoding human phosphatidylinositol transfer protein (PITPN) to 17p13.3: a gene showing homology to the Drosophila retinal degeneration B gene (rdgB). Fitzgibbon, J., Pilz, A., Gayther, S., Appukuttan, B., Dulai, K.S., Delhanty, J.D., Helmkamp, G.M., Yarbrough, L.R., Hunt, D.M. Cytogenet. Cell Genet. (1994) [Pubmed]
Sequence of a human cDNA encoding phosphatidylinositol transfer protein and occurrence of a related sequence in widely divergent eukaryotes. Dickeson, S.K., Helmkamp, G.M., Yarbrough, L.R. Gene (1994) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

PITPNA	Bos taurus
PITPNA	Canis lupus familiaris
pitpnab	Danio rerio
PITPNA	Gallus gallus
PITPNA	Macaca mulatta
Pitpna	Mus musculus
PITPNA	Pan troglodytes
Pitpna	Rattus norvegicus
pitpna	Xenopus (Silurana) tropicalis

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