Tenascin XB
Das TNXB-Gen kodiert ein extrazelluläres Matrixprotein welches einen anti-adhäsiven Effekt ausübt. Mutationen finden sich bei autosomal rezessivem Ehlers-Danlos-Syndrom und dominamtem familiärem vesicoureteralem Reflux 8.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Schalkwijk J et al. (2001) A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
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2. |
Koppens PF et al. (2002) Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.
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3. |
Mao JR et al. (2002) Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.
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4. |
Mao JR et al. (2001) The Ehlers-Danlos syndrome: on beyond collagens.
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5. |
Ikuta T et al. (1998) Structural analysis of mouse tenascin-X: evolutionary aspects of reduplication of FNIII repeats in the tenascin gene family.
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6. |
None (1997) A tenascin knockout with a phenotype.
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7. |
Speek M et al. (1996) Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes.
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8. |
Tee MK et al. (1995) Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X.
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9. |
Bristow J et al. (1993) Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B.
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10. |
Matsumoto K et al. (1994) The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C.
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11. |
Morel Y et al. (1989) Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus.
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12. |
Xu X et al. (1990) Presence of a vertebrate fibrinogen-like sequence in an echinoderm.
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13. |
Saga Y et al. (1992) Mice develop normally without tenascin.
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14. |
Gitelman SE et al. (1992) Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.
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15. |
Matsumoto K et al. (1992) Cluster of fibronectin type III repeats found in the human major histocompatibility complex class III region shows the highest homology with the repeats in an extracellular matrix protein, tenascin.
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16. |
Gbadegesin RA et al. (2013) TNXB mutations can cause vesicoureteral reflux.
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17. |
Pénisson-Besnier I et al. (2013) Compound heterozygous mutations of the TNXB gene cause primary myopathy.
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18. |
Zweers MC et al. (2005) Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.
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19. |
Zweers MC et al. (2003) Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.
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20. |
Burch GH et al. (1997) Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
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21. |
Orphanet article
Orphanet ID 120194
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22. |
NCBI article
NCBI 7148
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23. |
OMIM.ORG article
Omim 600985
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Update: 14. August 2020