Full name: SPG21 abhydrolase domain containing, maspardin

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ABHD21; ACP33; BM-019; GL010; MAST

Summary: 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]

Expression: Ubiquitous expression in thyroid (RPKM 30.9), placenta (RPKM 23.1) and 25 other tissues

Gene size: 26893bp

Exon count: 13