Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
TNXB
Familiärer vesicoureteraler Reflux 8
TNXB

Referenzen:

1.

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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2.

Gitelman SE et. al. (1992) Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.

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3.

Saga Y et. al. (1992) Mice develop normally without tenascin.

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4.

Xu X et. al. (1990) Presence of a vertebrate fibrinogen-like sequence in an echinoderm.

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5.

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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6.

Matsumoto K et. al. (1994) The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C.

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7.

Bristow J et. al. (1993) Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B.

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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.

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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10.

None (1997) A tenascin knockout with a phenotype.

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11.

Burch GH et. al. (1997) Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

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12.

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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13.

Mao JR et. al. (2001) The Ehlers-Danlos syndrome: on beyond collagens.

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14.

Schalkwijk J et. al. (2001) A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

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15.

Mao JR et. al. (2002) Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.

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16.

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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17.

Zweers MC et. al. (2003) Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

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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.

Gbadegesin RA et. al. (2013) TNXB mutations can cause vesicoureteral reflux.

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20.

Pénisson-Besnier I et. al. (2013) Compound heterozygous mutations of the TNXB gene cause primary myopathy.

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Update: 26. September 2018