SPG21 (SPG21 abhydrolase domain containing, maspardin)

2014-08-01  

Identity

HGNC
LOCATION
15q22.31
LOCUSID
ALIAS
ABHD21,ACP33,BM-019,GL010,MAST
FUSION GENES

Other Information

Locus ID:

NCBI: 51324
MIM: 608181
HGNC: 20373
Ensembl: ENSG00000090487

Variants:

dbSNP: 51324
ClinVar: 51324
TCGA: ENSG00000090487
COSMIC: SPG21

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090487ENST00000204566Q9NZD8
ENSG00000090487ENST00000204566A0A024R5Y1
ENSG00000090487ENST00000416889Q9NZD8
ENSG00000090487ENST00000433215Q9NZD8
ENSG00000090487ENST00000433215A0A024R5Y1
ENSG00000090487ENST00000557795H0YMB7
ENSG00000090487ENST00000558415H0YLD7
ENSG00000090487ENST00000558765H0YKB0
ENSG00000090487ENST00000558943H0YLW1
ENSG00000090487ENST00000559199H3BRR0
ENSG00000090487ENST00000559677H0YLT5
ENSG00000090487ENST00000560878H0YML6
ENSG00000090487ENST00000561078H0YKM6

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
145646682003Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.27
191841352009Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.14
212054782010[Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21].1

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