UCSCGeneAnnotation:hg18-10229

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Revision as of 15:38, 26 October 2010 by Jdcody (talk | contribs) (New page: Category:Genome Annotation Canonical gene details [http://genome.cse.ucsc.edu/cgi-bin/hgGene?hgg_chrom=none&org=Human&db=0&hgg_gene=uc002lkp.1 RTTN uc002lkp.1]<BR> Other loci: [http://...)
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Canonical gene details RTTN uc002lkp.1
Other loci: uc002lkq.1
Description: rotatin
RefSeq Summary (NM_173630): RTTN is required for the early developmental processes of left-right (L-R) specification and axial rotation and may play a role in notochord development (Faisst et al., 2002 [PubMed 11900971]).[supplied by OMIM].

(description snapshot 15:38, 26 October 2010 (UTC))
Alternate Gene Symbols: NM_173630, NP_775901, Q68CS9, Q6ZRL8, Q6ZTK3, Q86TG4, Q86VV8, Q8N8N8, Q8TBQ4, Q96IN9, Q9UFJ4, RTTN_HUMAN

created: Jdcody 15:38, 26 October 2010 (UTC) uc002lkp.1

Losses and gains reported in control human samples; PMID: 17666407. The nt mouse has a 1.6 Mb deletion encompassing 4 genes; Rttn, CD226, Dok6 and Txndc10. The homozygous mouse has a phenotype identical to the Rttn homozygous gene-trap line and is embryonic lethal. Hemizygosity in the mouse does not cause an obvious phenotype. PMID: 17551791

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