TMEM138: Difference between revisions

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== Clinical relevance ==
== Clinical relevance ==


Mutations in this gene have been shown to cause a [[ciliopathy]] indistinguishable to [[Joubert syndrome]].<ref name=pmid.22282472>{{cite journal | vauthors = Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG | title = Evolutionarily assembled cis-regulatory module at a human ciliopathy locus | journal = Science | volume = 335 | issue = 6071 | pages = 966–9 | date = Feb 2012 | pmid = 22282472 | doi = 10.1126/science.1213506 }}</ref>
Mutations in this gene have been shown to cause a [[ciliopathy]] indistinguishable to [[Joubert syndrome]].<ref name=pmid.22282472>{{cite journal | vauthors = Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG | title = Evolutionarily assembled cis-regulatory module at a human ciliopathy locus | journal = Science | volume = 335 | issue = 6071 | pages = 966–9 | date = Feb 2012 | pmid = 22282472 | doi = 10.1126/science.1213506 | pmc = 3671610 }}</ref>


== References ==
== References ==

Latest revision as of 22:19, 11 May 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Transmembrane protein 138 is a protein that in humans is encoded by the TMEM138 gene.[1]

Clinical relevance

Mutations in this gene have been shown to cause a ciliopathy indistinguishable to Joubert syndrome.[2]

References

  1. ↑ "Entrez Gene: Transmembrane protein 138". Retrieved 2012-01-30.
  2. ↑ Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG (Feb 2012). "Evolutionarily assembled cis-regulatory module at a human ciliopathy locus". Science. 335 (6071): 966–9. doi:10.1126/science.1213506. PMC 3671610. PMID 22282472.

Further reading


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