Synonyms:ABHD21, ACP33, BM-019, ENTREZ:51324, GL010, HGNC:20373, MAST, MIM:608181, NM_001127889, NM_001127890, NM_016630, NP_001121361, NP_001121362, NP_057714, SPG21 abhydrolase domain containing, maspardin, SPG21, XM_005254437, XM_017022297, XM_017022298, XP_005254494, XP_016877786, XP_016877787
Omim:OMIM:608181
Id:ENSG00000090487
Hgnc:HGNC:20373
Description:SPG21 abhydrolase domain containing, maspardin
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]