Identity
HGNC
LOCATION
15q22.31
LOCUSID
ALIAS
ABHD21,ACP33,BM-019,GL010,MAST
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51324
MIM: 608181
HGNC: 20373
Ensembl: ENSG00000090487
Variants:
dbSNP: 51324
ClinVar: 51324
TCGA: ENSG00000090487
COSMIC: SPG21
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Endocytosis | KEGG | ko04144 |
| Endocytosis | KEGG | hsa04144 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 21205478 | 2010 | [Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21]. | 1 |
| 21205478 | 2010 | [Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21]. | 1 |
| 19184135 | 2009 | Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. | 17 |
| 19184135 | 2009 | Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. | 17 |
| 14564668 | 2003 | Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. | 35 |
| 14564668 | 2003 | Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. | 35 |
Citation
Dessen P
SPG21 (SPG21 abhydrolase domain containing, maspardin)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54664/spg21-(spg21-abhydrolase-domain-containing-maspardin)
