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:
Related Diseases:
References:
1. |
Rutsch F et al. (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
|
2. |
Wang YH et al. (2005) Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.
|
3. |
Orphanet article
Orphanet ID 173562
|
4. |
NCBI article
NCBI 55788
|
5. |
OMIM.ORG article
Omim 612625
|
6. |
Wikipedia article
Wikipedia EN (LMBRD1)
|
Update: Aug. 14, 2020