Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

Hps5 - Hermansky-Pudlak syndrome 5 homolog (human)

Mus musculus

Synonyms: AI646796, AL022647, C85120, Hermansky-Pudlak syndrome 5 protein homolog, Ru2, ...

Hunter, J.J. et al., LI, W. et al., Moore, K.J. et al., Eppig, J.T. et al.

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High impact information on Hps5

Unexpectedly, dsu suppressed the ruby eye color of ruby-eye (ru) and ruby-eye-2 (ru-2) mice, to black [1].
Although expression patterns and chromosomal localization in the mouse are consistent with involvement of melastatin mutations in the mouse ruby-eye-2 defect, congenic analysis showed genetic segregation of the two loci [2].
Thus, the gene order of Ldh-1 and ru-2 on chromosome 7 remains uncertain [3].

Analytical, diagnostic and therapeutic context of Hps5

Our RH mapping data, sequencing of RT-PCR products, and Western blotting exclude the Copb gene as a candidate for ru2 [4].

References

Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations. Moore, K.J., Swing, D.A., Copeland, N.G., Jenkins, N.A. Genetics (1990) [Pubmed]
Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). Hunter, J.J., Shao, J., Smutko, J.S., Dussault, B.J., Nagle, D.L., Woolf, E.A., Holmgren, L.M., Moore, K.J., Shyjan, A.W. Genomics (1998) [Pubmed]
Analysis of recombination in the centromere region of mouse chromosome 7 using ovarian teratoma and backcross methods. Eppig, J.T., Eicher, E.M. J. Hered. (1988) [Pubmed]
cDNA sequence and mapping of the mouse Copb gene encoding the beta subunit of the COPI coatomer complex. LI, W., Elliott, R.W., Novak, E.K., Swank, R.T. Somat. Cell Mol. Genet. (1999) [Pubmed]

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HPS5	Homo sapiens
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