SPG21
Sign in to saveAlso known as ACP33, GL010, MAST, BM-019, spastic paraplegia 21 (autosomal recessive, Mast syndrome), SPG21, maspardin, ABHD21, SPG21 abhydrolase domain containing, maspardin
Maspardin is a protein that in humans is encoded by the SPG21 gene.
Gene data
SPG21- Name
- SPG21 abhydrolase domain containing, maspardin
- Type
- protein-coding
- Aliases
- ABHD21, ACP33, BM-019, GL010, MAST
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].
via MyGene.info
Gene · Ensembl
SPG21 abhydrolase domain containing, maspardin
- Symbol
- SPG21
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 15:64,954,566-64,990,312
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 9603
- exact match
- identifiers.org/ncbigene/51324
- genomic end
- 65282648
- genomic start
- 64963022
- cytogenetic location
- 15q22.31
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- Interactions
- References
- Further reading
Maspardin is a protein that in humans is encoded by the SPG21 gene.
The protein encoded by this gene was identified by a two-hybrid screen using CD4 as the bait. It 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.