ATP-binding cassette sub-family D member 4
The ABCD4 gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive Methylmalonic aciduria and homocystinuria cblJ.
Genetests:
Related Diseases:
References:
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Coelho D et al. (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
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2. |
Holzinger A et al. (1997) Primary structure of human PMP69, a putative peroxisomal ABC-transporter.
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3. |
Shani N et al. (1997) Identification of a fourth half ABC transporter in the human peroxisomal membrane.
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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.
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5. |
Asheuer M et al. (2005) Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
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6. |
Orphanet article
Orphanet ID 315413
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7. |
NCBI article
NCBI 5826
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8. |
OMIM.ORG article
Omim 603214
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9. |
Wikipedia article
Wikipedia EN (ABCD4)
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Update: Aug. 14, 2020