Cofaktor E der Tubulinfaltung
Der Tubulinfaltungscofaktor E ist ein Chaperon des Tubulins. Mutationen führen zum autosomal rezessiven Hypoparathyreoidismus-Retardierung-Dysmorphismus-Syndrom oder zum autosomal rezessiven Kenny-Caffey-Syndrom.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
|
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
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10. |
OMIM.ORG article
Omim 604934
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11. |
Orphanet article
Orphanet ID 119938
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Update: 14. August 2020