ATP-Bindungs-Kassette Subfamilie D member 4
Das ABCD4-Gen kodiert Transportprotein, welches im Cobalamin-Stoffwechsel beteiligt ist. Mutationen verursachen die autosomal rezessive Methylmalonazidurie mit Homozysteinurie cblJ
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Coelho D et al. (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
|
2. |
Holzinger A et al. (1997) Primary structure of human PMP69, a putative peroxisomal ABC-transporter.
|
3. |
Shani N et al. (1997) Identification of a fourth half ABC transporter in the human peroxisomal membrane.
|
4. |
Holzinger A et al. (1998) Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.
|
5. |
Asheuer M et al. (2005) Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
|
6. |
Orphanet article
Orphanet ID 315413
|
7. |
NCBI article
NCBI 5826
|
8. |
OMIM.ORG article
Omim 603214
|
Update: 14. August 2020