Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Tubulin folding cofactor E

Mutations of the Tubulin-specific chaperone E cause autosomal recessive hypoparathyroidism-retardation-dysmorphism syndrome or autosomal recessive form of Kenny-Caffey syndrome.

Genetests:

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

Related Diseases:

Kenny-Caffey syndrome
TBCE
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE

References:

1.

Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

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2.

Diaz GA et al. (1999) Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

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3.

Martin N et al. (2002) A missense mutation in Tbce causes progressive motor neuronopathy in mice.

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4.

Bommel H et al. (2002) Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease.

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5.

Tian G et al. (2006) Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD.

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6.

Schmalbruch H et al. (1991) A new mouse mutant with progressive motor neuronopathy.

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7.

Lewis SA et al. (1996) Chaperonin-mediated folding of actin and tubulin.

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8.

Tian G et al. (1996) Pathway leading to correctly folded beta-tubulin.

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9.

NCBI article

NCBI 6905 external link
10.

OMIM.ORG article

Omim 604934 external link
11.

Orphanet article

Orphanet ID 119938 external link
12.

Wikipedia article

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