Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.L444P
Back to variants list

HSPD1

NM_002156.5:p.L444P

Associated Papers

Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism.

Baden P et al.

Nature Communications, 2023

37024507 (PubMed )
Supplement: 41467_2023_37454_MOESM2_ESM.pdf

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

Lu J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."