Homo sapiens (Human) Maspardin spg21 acid cluster protein 33 ACP33 sbm-019 (gl010)flj24010 Maspardin
Maspardin-ACP33-SPG21 is mutated in Mast syndrome (Cross and McKusick 1967, Simpson et al 2003)\; In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome: Onset in the late teens or twenties and slow progression, an autosomal recessive, complicated form of hereditary spastic paraplegia with dementia. A 1-bp insertion (601insA) in the ACP33 gene, causing a frameshift and premature termination of the protein was found (Simpson et al 2003). Ishiura et al. (2014) reported 2 Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967) The mutation was A108P substitution. ACP33 binds the intracellular domain of CD4. Mutation S109A abolishes the interraction. S109 is in similar position as active site serine of a\/b hydrolase (Zeitlmann 2001). Maspardin interacts with the aldehyde dehydrogenase ALDH16A1 (Hanna 2009)
MGEIKVSPDY NWFRGTVPLK KIIVDDDDSK IWSLYDAGPR SIRCPLIFLP PVSGTADVFF RQILALTGWG YRVIALQYPV YWDHLEFCDG FRKLLDHLQL DKVHLFGASL GGFLAQKFAE YTHKSPRVHS LILCNSFSDT SIFNQTWTAN SFWLMPAFML KKIVLGNFSS GPVDPMMADA IDFMVDRLES LGQSELASRL TLNCQNSYVE PHKIRDIPVT IMDVFDQSAL STEAKEEMYK LYPNARRAHL KTGGNFPYLC RSAEVNLYVQ IHLLQFHGTK YAAIDPSMVS AEELEVQKGS LGISQEEQ
Title : Mast Syndrome Outside the Amish Community: SPG21 in Europe - Amprosi_2022_Front.Neurol_12_799953 |
Author(s) : Amprosi M , Indelicato E , Nachbauer W , Hussl A , Stendel C , Eigentler A , Gallenmuller C , Boesch S , Klopstock T |
Ref : Front.Neurol , 12 :799953 , 2022 |
Abstract : Amprosi_2022_Front.Neurol_12_799953 |
ESTHER : Amprosi_2022_Front.Neurol_12_799953 |
PubMedSearch : Amprosi_2022_Front.Neurol_12_799953 |
PubMedID: |
Gene_locus related to this paper: human-SPG21 |
Title : Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome - Xue_2021_CNS.Neurosci.Ther__ |
Author(s) : Xue YY , Huang XR , Dong HL , Wu ZY , Li HF |
Ref : CNS Neurosci Ther , : , 2021 |
Abstract : Xue_2021_CNS.Neurosci.Ther__ |
ESTHER : Xue_2021_CNS.Neurosci.Ther__ |
PubMedSearch : Xue_2021_CNS.Neurosci.Ther__ |
PubMedID: 34492745 |
Gene_locus related to this paper: human-SPG21 |
Title : Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21 - |
Author(s) : Scarlato M , Citterio A , Barbieri A , Godi C , Panzeri E , Bassi MT |
Ref : Journal of Neurology , 264 :2021 , 2017 |
PubMedID: 28752238 |
Gene_locus related to this paper: human-SPG21 |
Title : Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses - Ishiura_2014_J.Hum.Genet_59_163 |
Author(s) : Ishiura H , Takahashi Y , Hayashi T , Saito K , Furuya H , Watanabe M , Murata M , Suzuki M , Sugiura A , Sawai S , Shibuya K , Ueda N , Ichikawa Y , Kanazawa I , Goto J , Tsuji S |
Ref : J Hum Genet , 59 :163 , 2014 |
Abstract : Ishiura_2014_J.Hum.Genet_59_163 |
ESTHER : Ishiura_2014_J.Hum.Genet_59_163 |
PubMedSearch : Ishiura_2014_J.Hum.Genet_59_163 |
PubMedID: 24451228 |
Gene_locus related to this paper: human-SPG21 |
Title : Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance - Finsterer_2012_J.Neurol.Sci_318_1 |
Author(s) : Finsterer J , Loscher W , Quasthoff S , Wanschitz J , Auer-Grumbach M , Stevanin G |
Ref : Journal of Neurology Sci , 318 :1 , 2012 |
Abstract : Finsterer_2012_J.Neurol.Sci_318_1 |
ESTHER : Finsterer_2012_J.Neurol.Sci_318_1 |
PubMedSearch : Finsterer_2012_J.Neurol.Sci_318_1 |
PubMedID: 22554690 |
Gene_locus related to this paper: human-SPG21 |
Title : [Study of the effect and mechanism of spastic paraplegia 21 protein on the replication of hepatitis B virus] - Gao_2011_Zhonghua.Gan.Zang.Bing.Za.Zhi_19_747 |
Author(s) : Gao GS , Weng PJ , Li RY , Ding SX |
Ref : Zhonghua Gan Zang Bing Za Zhi , 19 :747 , 2011 |
Abstract : Gao_2011_Zhonghua.Gan.Zang.Bing.Za.Zhi_19_747 |
ESTHER : Gao_2011_Zhonghua.Gan.Zang.Bing.Za.Zhi_19_747 |
PubMedSearch : Gao_2011_Zhonghua.Gan.Zang.Bing.Za.Zhi_19_747 |
PubMedID: 22409846 |
Gene_locus related to this paper: human-SPG21 |
Title : Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons - Soderblom_2010_Neurogenetics_11_369 |
Author(s) : Soderblom C , Stadler J , Jupille H , Blackstone C , Shupliakov O , Hanna MC |
Ref : Neurogenetics , 11 :369 , 2010 |
Abstract : Soderblom_2010_Neurogenetics_11_369 |
ESTHER : Soderblom_2010_Neurogenetics_11_369 |
PubMedSearch : Soderblom_2010_Neurogenetics_11_369 |
PubMedID: 20661613 |
Gene_locus related to this paper: human-SPG21 , mouse-SPG21 |
Title : Interaction of the SPG21 protein ACP33\/maspardin with the aldehyde dehydrogenase ALDH16A1 - Hanna_2009_Neurogenetics_10_217 |
Author(s) : Hanna MC , Blackstone C |
Ref : Neurogenetics , 10 :217 , 2009 |
Abstract : Hanna_2009_Neurogenetics_10_217 |
ESTHER : Hanna_2009_Neurogenetics_10_217 |
PubMedSearch : Hanna_2009_Neurogenetics_10_217 |
PubMedID: 19184135 |
Gene_locus related to this paper: human-SPG21 , mouse-SPG21 |
Title : Differential brain transcriptome of beta4 nAChR subunit-deficient mice: is it the effect of the null mutation or the background strain? - Kedmi_2007_Physiol.Genomics_28_213 |
Author(s) : Kedmi M , Orr-Urtreger A |
Ref : Physiol Genomics , 28 :213 , 2007 |
Abstract : Kedmi_2007_Physiol.Genomics_28_213 |
ESTHER : Kedmi_2007_Physiol.Genomics_28_213 |
PubMedSearch : Kedmi_2007_Physiol.Genomics_28_213 |
PubMedID: 16985005 |
Gene_locus related to this paper: human-SPG21 |
Title : Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147 |
Author(s) : Simpson MA , Cross H , Proukakis C , Pryde A , Hershberger R , Chatonnet A , Patton MA , Crosby AH |
Ref : American Journal of Human Genetics , 73 :1147 , 2003 |
Abstract : Simpson_2003_Am.J.Hum.Genet_73_1147 |
ESTHER : Simpson_2003_Am.J.Hum.Genet_73_1147 |
PubMedSearch : Simpson_2003_Am.J.Hum.Genet_73_1147 |
PubMedID: 14564668 |
Gene_locus related to this paper: human-SPG21 |
Title : Cloning of ACP33 as a novel intracellular ligand of CD4 - Zeitlmann_2001_J.Biol.Chem_276_9123 |
Author(s) : Zeitlmann L , Sirim P , Kremmer E , Kolanus W |
Ref : Journal of Biological Chemistry , 276 :9123 , 2001 |
Abstract : Zeitlmann_2001_J.Biol.Chem_276_9123 |
ESTHER : Zeitlmann_2001_J.Biol.Chem_276_9123 |
PubMedSearch : Zeitlmann_2001_J.Biol.Chem_276_9123 |
PubMedID: 11113139 |
Gene_locus related to this paper: human-SPG21 , mouse-SPG21 |
Title : Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances - |
Author(s) : Cross HE |
Ref : Birth Defects Orig Artic Ser , 7 :214 , 1971 |
PubMedID: 5173363 |
Gene_locus related to this paper: human-SPG21 |
Title : The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances - |
Author(s) : Cross HE , McKusick VA |
Ref : Archives of Neurology , 16 :1 , 1967 |
PubMedID: 6024251 |
Gene_locus related to this paper: human-SPG21 |