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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPG11 Gene

protein-coding GIFtS: 48
GCID: GC15M044854

spastic paraplegia 11 (autosomal recessive)

(Previous name: KIAA1840 )
(Previous symbol: KIAA1840)

Explore 15 diseases affiliated with
SPG11 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Spastic Paraplegia 11 (Autosomal Recessive)¹ ²
KIAA1840¹ ² ³ ⁵
Colorectal Carcinoma-Associated Protein² ³
Spastic Paraplegia 11 Protein² ³
FLJ21439¹ ⁵
Spatacsin¹

External Ids:	HGNC: 11226¹	Entrez Gene: 80208²	Ensembl: ENSG00000104133⁷	OMIM: 610844⁵	UniProtKB: Q96JI7³

Export aliases for SPG11 gene to outside databases

Previous GC identifers: GC15U990075 GC15M042644 GC15M021678

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPG11:

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects

in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different

isoforms have been found for this gene. (provided by RefSeq, May 2009)

Gene Wiki entry for SPG11

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPG11 gene promoter:
RFX1 USF-1 Nkx2-2 NCX/Ncx c-Myb Pax-4a E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SPG11 promoter sequence

Search SABiosciences Chromatin IP Primers for SPG11

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPG11

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q14 Ensembl cytogenetic band: 15q21.1 HGNC cytogenetic band: 15q13-q15

SPG11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPG11 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M044854: view genomic region (about GC identifiers)

Start:	44,854,894 bp from pter	End:	44,955,876 bp from pter
Size:	100,983 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SPTCS_HUMAN, Q96JI7 (See protein sequence)

Recommended Name: Spatacsin

Size: 2443 amino acids; 278868 Da

Subunit: Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26

Subcellular location: Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytosol. Nucleus. Note=Mainly

cytoplasmic

Sequence caution: Sequence=AAH24161.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=AAX54692.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15065.1;

Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC03600.1; Type=Erroneous initiation;

Note=Translation N-terminally extended;

Secondary accessions: A8KAX9 B9EK60 F5H3N6 Q4VC11 Q58G86 Q69YG6 Q6NW01 Q8N270 Q8TBU9 Q9H734

Alternative splicing: 3 isoforms: Q96JI7-1 Q96JI7-2 Q96JI7-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPG11: NX_Q96JI7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96JI7

SPG11 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001153699.1 NP_079413.3

ENSEMBL proteins:

ENSP00000261866 ENSP00000453246 ENSP00000445278 ENSP00000396110 ENSP00000453314

ENSP00000453599 ENSP00000452744 ENSP00000452991 ENSP00000453238 ENSP00000453921

ENSP00000453490 ENSP00000452629 ENSP00000453848 ENSP00000453227

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	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	IEA	--
GO:0005886	plasma membrane	IDA	--
GO:0016021	integral to membrane	IEA	--

SPG11 for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q96JI7

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SPG11 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPG11
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate SPG11 (see all 11):
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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--

SPG11 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SPG11

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for SPG11 (Q96JI7³ ENSP00000261866⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NFKBIA	P25963³	I2D: score=2
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008219	cell death	IEA	--

SPG11 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SPG11
Search CenterWatch for drugs/clinical trials and news about SPG11 / SPTCS

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SPG11 gene (2 alternative transcripts):

NM_001160227.1 NM_025137.3

Unigene Clusters for SPG11:

Spastic paraplegia 11 (autosomal recessive)

Hs.656271 [show with all ESTs], Hs.683876

Unigene Representative Sequences: NM_025137, AK094331

18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):

ENST00000261866(uc010bdw.3 uc001ztx.3 uc010ueh.2 uc010uei.2)

ENST00000559511 ENST00000535302 ENST00000427534 ENST00000560299 ENST00000558138

ENST00000559347 ENST00000561268 ENST00000559933 ENST00000558319(uc001zty.1)

ENST00000558080 ENST00000559822 ENST00000558790 ENST00000558253 ENST00000560858

ENST00000558155 ENST00000561391 ENST00000558561

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		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate SPG11 (see all 11):
		hsa-miR-576-5p hsa-miR-495 hsa-miR-4328 hsa-miR-7-2* hsa-miR-4263 hsa-miR-138-2* hsa-miR-1205 hsa-miR-544b

		SwitchGear 3'UTR luciferase reporter plasmid: SPG11 3' UTR sequence

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Additional cDNA sequence: AK094331.1

24/27 DOTS entries (see all 27):

DT.442936 DT.100059258 DT.92451726 DT.100673143 DT.95356622 DT.65285088 DT.121643100 DT.95276024

DT.423800 DT.91745523 DT.95337998 DT.121066257 DT.121066270 DT.121066341 DT.121066343 DT.70101879

DT.95283891 DT.100662805 DT.100838644 DT.102731 DT.121066353 DT.91668277 DT.121066345 DT.218090

24/239 AceView cDNA sequences (see all 239):

AA780070 AA682833 BU629240 BM313379 BQ010699 BX951317 AX746829 CB163104

AA971090 AW439401 BM455245 BQ003413 AA973515 AU185179 BI856119 AA479486

BC067798 NM_025137 BQ710075 AK057869 BQ226081 CA419631 AK091176 AI420177

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for SPG11 (see all 14) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20a	·	20b	^	21	^	22	^	23a	·	23b	^	24a	·
SP1:
SP2:
SP3:
SP4:
SP5:																																							-				-

ExUns:	24b	^	25	^	26a	·	26b	^	27a	·	27b	·	27c	·	27d	^	28	^	29	^	30	^	31	^	32	^	33	^	34a	·	34b	·	34c	·	34d	^	35	^	36	^	37a	·	37b	·	37c	·	37d	^	38	^	39a	·
SP1:
SP2:					-										-						-				-																-
SP3:																																									-						-
SP4:																																							-		-		-		-		-		-
SP5:

ExUns:	39b	^	40	^	41a	·	41b	^	42	^	43	^	44	^	45
SP1:
SP2:
SP3:							-
SP4:							-
SP5:

ECgene alternative splicing isoforms for SPG11

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPG11 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTAGCAGGTT

About this image
See SPG11 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPG11

SOURCE GeneReport for Unigene clusters: Hs.656271 Hs.683876

UniProtKB/Swiss-Prot: SPTCS_HUMAN, Q96JI7

Tissue specificity: Expressed in all structures of brain, with a high expression in cerebellum

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPG11 gene from 8/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spg11^{1 , 5}	spastic paraplegia 11^{1, 5}	80.55(n)¹ 76.99(a)¹		2 (60.50 cM)⁵ 214585¹ NM_145531.2¹ NP_663506.2¹ 122053520⁵
chicken (Gallus gallus)	Aves	SPG11¹	spastic paraplegia 11 (autosomal recessive)	67.24(n) 62.06(a)		415572 XM_003641831.1 XP_003641879.1
lizard (Anolis carolinensis)	Reptilia	SPG11⁶	--	54(a)	1 ↔ 1	GL343642.1(281158-330853)
tropical clawed frog (Xenopus tropicalis)	Amphibia	MGC75755²	hypothetical protein MGC75755	70.56(n)		BC061290.1
zebrafish (Danio rerio)	Actinopterygii	spg11¹	spastic paraplegia 11	51.05(n) 43.79(a)		793551 NM_001194994.1 NP_001181923.1
fruit fly (Drosophila melanogaster)	Insecta	CG13531⁶	--	18(a)	1 ↔ 1	2R(18735355-18741220)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G39420⁶	uncharacterized protein	13(a)	1 ↔ 1	4(18339287-18355093)
rice (Oryza sativa)	Liliopsida	--	expressed protein	13(a)	1 ↔ 1	1(4373129-4393083)

ENSEMBL Gene Tree for SPG11 (if available)
TreeFam Gene Tree for SPG11 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80338869^1,2	C,F,	non-pathogenic	44856873(-)	`GCCTAC/TGATTT`	4	Y	syn¹		3		NA EU	5689
rs36014111^1,2	C,F,H,	non-pathogenic	44900675(+)	`GATGGC/TAGGAC`	4	L	syn¹		10		NA NS EU	6749
rs3759871^1,2	C,F,A,H,	non-pathogenic	44943757(+)	`GGGAAA/GAACAC`	4	S F	mis¹ trp³		32		EA NA NS WA CSA EU	8859
rs80338868^1,2	C,F,	non-pathogenic	44949354(-)	`TCGATG/ATTGCA`	4	/I /V	mis¹		2		NA EU	5869
rs141848292^1,2	C,F	pathogenic	44876255(+)	`CTCCTG/ACTCTT`	4	/Q /*	stg¹		2		NA EU	5873
rs201181492^1,2		--	44855509(+)	`ATAAAA/GAAACA`	2	--	int¹		0	--	--	--	--
rs191284070^1,2		--	44855589(+)	`TGGAGA/TGCAGA`	2	--	int¹		0	--	--	--	--
rs182060981^1,2		--	44855597(+)	`AGAGGA/CGCAGT`	2	--	int¹		0	--	--	--	--
rs186689451^1,2		--	44855600(+)	`GGAGCA/CGTCTT`	2	--	int¹		0	--	--	--	--
rs192456885^1,2		--	44855630(+)	`CTGCTC/GGGTTC`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SPG11 (44854894 - 44955876 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SPG11: --
Human Gene Mutation Database (HGMD): SPG11

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPG11

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SPG11 for disorders           About GeneDecksing

OMIM gene information: 610844
OMIM disorders: 604360
UniProtKB/Swiss-Prot: SPTCS_HUMAN, Q96JI7

Defects in SPG11 are the cause of spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:604360]. Spastic

paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of

the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include

difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In

some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may

spread to other parts of the body

15 diseases for SPG11: About MalaCards

spastic paraplegia spastic paraplegia type 11 paraplegia spasticity

hereditary spastic paraplegia corpus callosum spastic paraparesis amyotrophic lateral sclerosis

lateral sclerosis intellectual disability optic atrophy carcinoma

retinal degeneration retinitis neuronitis

1 disease from the University of Copenhagen DISEASES database for SPG11:

Paraplegia

GeneTests: SPG11

Spastic Paraplegia 11

Human Genome Epidemiology (HuGE) Navigator: SPG11 (1 document)

Export disorders for SPG11 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SPG11 gene, integrated from 9 sources (see all 52):
(articles sorted by number of sources associating them with SPG11)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (PubMed id 17322883)^{1, 2, 3} Stevanin G....Brice A. (2007)
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. (PubMed id 19105190)^{1, 2} Denora P.S.... Santorelli F.M. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)^{1, 2} Nagase T.... Ohara O. (2001)
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. (PubMed id 10408536)^{1, 3} Martinez Murillo F....Hoffman E.P. (1999)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
White and grey matter abnormalities in patients with S PG11 mutations. (PubMed id 22696581)¹ Franca M.C....Lopes-Cendes I. (2012)
Exome sequencing reveals SPG11 mutations causing juven ile ALS. (PubMed id 22154821)¹ Daoud H....Rouleau G.A. (2012)
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. (PubMed id 22237444)¹ Conceicao Pereira M....Alonso I. (2012)
Kjellin syndrome: long-term neuro-ophthalmologic foll ow-up and novel mutations in the SPG11 gene. (PubMed id 21035867)¹ Puech B....Defoort-Dhellemmes S. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 80208	HGNC: 11226	AceView: FLJ21439	Ensembl:ENSG00000104133	euGenes: HUgn80208
ECgene: SPG11	H-InvDB: SPG11

(According to HUGE)
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HUGE: KIAA1840

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SPG11	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPG11

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spastic paraplegia 11 (autosomal recessive)

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spastic paraplegia 11 (autosomal recessive)

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