https://pubmed.ncbi.nlm.nih.gov/41690933/
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Most patients with a rare movement disorder (MD) do not receive a molecular diagnosis, and the underlying genetic variants and mediating genes remain elusive....
loss of function
https://severus.dbmi.pitt.edu/wiki-pi/index.php/pair/view/823/3552
CAPN1 and IL1A - Wiki-Pi
Wiki-wiki: a wiki resource centered on human protein-protein interactions
wikipi
https://severus.dbmi.pitt.edu/wiki-pi/index.php/pair/view/823/7157
CAPN1 and TP53 - Wiki-Pi
Wiki-wiki: a wiki resource centered on human protein-protein interactions
wikipi
https://edrn.cancer.gov/data-and-resources/miscellaneous-resources/hgnc-entry-for-human-capn1/
HGNC entry for human CAPN1
This is a miscellaneous resource located at https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1476
for humanhgncentry