Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Cytochrom P450, Familie 24, Subfamilie A, Polypeptid 1

Das CYP24A1-Gen kodiert eine Cytochrom P Enzym, welches für die Inaktivierung von aktivem Vitamin D, dem Calcitriol, verantwortlich ist. Entsprechend führen inaktivierende Mutationen zu Symptomen, die einer Vitamin D Hypervitaminose ähnlich sind. Die autosomal rezessive Erkrankung, die durch solche Mutation ausgelöst wird, heißt infantile Hypercalciämie.

Diagnostik:

Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Infantile Hypercalciämie
CYP24A1

Referenzen:

1.

Albertson DG et al. (2000) Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene.

[^]
2.

Kasuga H et al. (2002) Characterization of transgenic rats constitutively expressing vitamin D-24-hydroxylase gene.

[^]
3.

Liu PT et al. (2006) Toll-like receptor triggering of a vitamin D-mediated human antimicrobial response.

[^]
4.

Ogunkolade WB et al. (2006) Vitamin D metabolism in peripheral blood mononuclear cells is influenced by chewing "betel nut" (Areca catechu) and vitamin D status.

[^]
5.

Ohyama Y et al. (1991) Cloning and expression of cDNA encoding 25-hydroxyvitamin D3 24-hydroxylase.

[^]
6.

Chen KS et al. (1995) Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements.

[^]
7.

Malas S et al. (1994) The genes for endothelin 3, vitamin D 24-hydroxylase, and melanocortin 3 receptor map to distal mouse chromosome 2, in the region of conserved synteny with human chromosome 20.

[^]
8.

Labuda M et al. (1993) Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D-deficient rickets.

[^]
9.

Hahn CN et al. (1993) Localization of the human vitamin D 24-hydroxylase gene (CYP24) to chromosome 20q13.2-->q13.3.

[^]
10.

Chen KS et al. (1993) Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA.

[^]

 

 
Ihre Nachricht: