Aliases for SPG21 Gene
External Ids for SPG21 Gene
Previous GeneCards Identifiers for SPG21 Gene
The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
GeneCards Summary for SPG21 Gene
SPG21 (SPG21, Maspardin) is a Protein Coding gene. Diseases associated with SPG21 include Mast Syndrome and Melanoma And Neural System Tumor Syndrome. Among its related pathways are Endocytosis. GO annotations related to this gene include CD4 receptor binding.
UniProtKB/Swiss-Prot for SPG21 Gene
May play a role as a negative regulatory factor in CD4-dependent T-cell activation.