Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Transmembrane protein 138

The TMEM138 gene encodes a transmembraneous protein involved in cilia assambly. Mutations cause autosomal recessive Joubert syndrome 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 16
TMEM138

References:

1.

Lee JH et al. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

external link
2.

Orphanet article

Orphanet ID 292990 external link
3.

NCBI article

NCBI 51524 external link
4.

OMIM.ORG article

Omim 614459 external link
5.

Wikipedia article

Wikipedia EN (TMEM138) external link
Update: Aug. 14, 2020
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