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Probable lysosomal cobalamin transporter

The LMBRD1 gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive Methylmalonic aciduria and homocystinuria cblF.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Methylmalonic aciduria and homocystinuria cblF
LMBRD1

References:

1.

Rutsch F et al. (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

external link
2.

Wang YH et al. (2005) Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.

external link
3.

Orphanet article

Orphanet ID 173562 external link
4.

NCBI article

NCBI 55788 external link
5.

OMIM.ORG article

Omim 612625 external link
6.

Wikipedia article

Wikipedia EN (LMBRD1) external link
Update: Aug. 14, 2020
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