Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Transmembranöses Protein 237

Das TMEM237-Gen kodiert ein transmembranöses Protein welches an WNT-Signalweiterleitung beteiligt ist. Mutationen führen zum Joubert-Syndrom 14.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Joubert-Syndrom 14
TMEM237

Referenzen:

1.

Chong JX et. al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

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2.

Janecke AR et. al. (2004) Joubert-like syndrome unlinked to known candidate loci.

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3.

Boycott KM et. al. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

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4.

Zuniga FI et. al. (2010) Deciphering the structure and function of Als2cr4 in the mouse retina.

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5.

Huang L et. al. (2011) TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

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Update: 23. März 2018