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SPG21 / MAST
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG21 / MAST 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.
| Gene Name: | spastic paraplegia 21 (autosomal recessive, Mast syndrome) |
| Synonyms: | SPG21, ACP33, Acid cluster protein 33, BM-019, Maspardin, GL010, MAST, Spastic paraplegia 21 protein |
| Target Sequences: | NM_016630 NP_057714.1 Q9NZD8 |
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