SPG21 SPG21 abhydrolase domain containing, maspardin
Gene ID: 51324, updated on 7-Apr-2024Gene type: protein coding
Also known as: MAST; ACP33; GL010; ABHD21; BM-019
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- Go to complete Gene record for SPG21
- Go to Variation Viewer for SPG21 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mast syndrome | See labs |
Genomic context
- Location:
- 15q22.31
- Sequence:
- Chromosome: 15; NC_000015.10 (64963022..64989914, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPG21 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SPG21 database
- Variation ViewerRelated Variants
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