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AFG3L2 Gene(Protein Coding)

AFG3 Like Matrix AAA Peptidase Subunit 2

GCID:
GC18M012328
GIFtS:
61
Genes Participants
UDN Logo

Aliases for AFG3L2 Gene

Aliases for AFG3L2 Gene

  • AFG3 Like Matrix AAA Peptidase Subunit 2 2 3 5
  • Paraplegin-Like Protein 3 4
  • AFG3 Like AAA ATPase 2 2 3
  • AFG3 ATPase Family Member 3-Like 2 (S. Cerevisiae) 2
  • AFG3 (ATPase Family Gene 3, Yeast)-Like 2 2
  • AFG3 ATPase Family Member 3-Like 2 3
  • AFG3 ATPase Family Gene 3-Like 2 3
  • ATPase Family Gene 3, Yeast 3
  • Spinocerebellar Ataxia 28 2
  • AFG3-Like Protein 2 3
  • EC 3.4.24.- 4
  • EC 3.4.24 61
  • SPAX5 3
  • SCA28 3

External Ids for AFG3L2 Gene

Previous HGNC Symbols for AFG3L2 Gene

  • SCA28

Previous GeneCards Identifiers for AFG3L2 Gene

  • GC18P012541
  • GC18M012385
  • GC18M012319
  • GC18M012282

Summaries for AFG3L2 Gene

Entrez Gene Summary for AFG3L2 Gene

  • This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

GeneCards Summary for AFG3L2 Gene

AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2) is a Protein Coding gene. Diseases associated with AFG3L2 include Spinocerebellar Ataxia 28 and Ataxia, Spastic, 5, Autosomal Recessive. GO annotations related to this gene include metalloendopeptidase activity and unfolded protein binding.

UniProtKB/Swiss-Prot for AFG3L2 Gene

  • ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU.

Gene Wiki entry for AFG3L2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFG3L2 Gene

Genomics for AFG3L2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for AFG3L2 Gene

Enhancers for AFG3L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G012306 1.7 FANTOM5 ENCODE dbSUPER 11.2 +68.7 68658 5.2 CREB3L1 SIN3A DMAP1 ZBTB7B ZNF766 ZNF143 FOS SP3 JUNB REST TUBB6 PRELID3A AFG3L2 RNU7-129P CHMP1B
GH18G012605 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -230.1 -230092 3.3 PKNOX1 FOXA2 SIN3A GATA2 FOS NFIL3 MAFF ATF4 STAT3 HNF4A SPIRE1 PRELID3A ENSG00000267199 RNU7-129P AFG3L2 PSMG2 CEP76 PTPN2 GC18P012513
GH18G012313 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +61.4 61351 5.8 PKNOX1 ZIC2 RFX5 ZNF121 ZNF316 POLR2A SCRT2 KDM5B MAFK ZNF263 TUBB6 AFG3L2 RNU7-129P PRELID3A IMPA2 CHMP1B
GH18G012333 1.2 ENCODE dbSUPER 12 +41.4 41440 3.8 FOXA2 PKNOX1 FEZF1 TSHZ1 GLIS1 RCOR2 PBX2 KDM1A WT1 SP7 TUBB6 AFG3L2 RNU7-129P PRELID3A ENSG00000267199
GH18G012327 1.1 ENCODE dbSUPER 12 +49.3 49278 1.7 HDAC1 ELF3 RB1 ARNT AGO1 ARID4B SIN3A DMAP1 RAD21 GLIS2 TUBB6 AFG3L2 RNU6-170P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AFG3L2 on UCSC Golden Path with GeneCards custom track

Promoters for AFG3L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100969 214 2600 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS

Transcription factor binding sites by QIAGEN in the AFG3L2 gene promoter:

Genomic Location for AFG3L2 Gene

Chromosome:
18
Start:
12,328,944 bp from pter
End:
12,377,314 bp from pter
Size:
48,371 bases
Orientation:
Minus strand

Genomic View for AFG3L2 Gene

Genes around AFG3L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFG3L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFG3L2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AFG3L2 Gene

Proteins for AFG3L2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for AFG3L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4W6-AFG32_HUMAN
    Recommended name:
    AFG3-like protein 2
    Protein Accession:
    Q9Y4W6
    Secondary Accessions:
    • Q6P1L0

    Protein attributes for AFG3L2 Gene

    Size:
    797 amino acids
    Molecular mass:
    88584 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homooligomer (PubMed:17101804). Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:14623864). Interacts with MAIP1 (PubMed:27499296, PubMed:27642048).

    Three dimensional structures from OCA and Proteopedia for AFG3L2 Gene

neXtProt entry for AFG3L2 Gene

Protein Expression for AFG3L2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for AFG3L2 Gene

Q9Y4W6:
  • GGLFSVGETTAK
  • AGEANVPF
  • VWFNIGSVDTFERNLE
  • SIFKVHLRPLKLD
  • LGYAQYLP
  • GHAVAGW
  • LVEMDGF
  • FIDEIDAVG
  • VDRLEVVNK
  • AYHEAGH
  • TLNQLLVE
  • EMFVGVG
  • PDILDPAL
  • GAKIPKG
  • HFEQAIERV
  • GRVSEEIFFG
  • GAQDDLRKVT
  • TPGFSGA
  • DPLLKVSIIPR
  • GGQSEQENTLNQ
  • ALLRPGRFDR
  • EKPYSEATA

Post-translational modifications for AFG3L2 Gene

  • Ubiquitination at Lys173, Lys182, posLast=342342, posLast=481481, and posLast=611611
  • Modification sites at PhosphoSitePlus

Other Protein References for AFG3L2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AFG3L2 Gene

Gene Families for AFG3L2 Gene

HGNC:

Protein Domains for AFG3L2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AFG3L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4W6

UniProtKB/Swiss-Prot:

AFG32_HUMAN :
  • In the N-terminal section; belongs to the AAA ATPase family.
Family:
  • In the N-terminal section; belongs to the AAA ATPase family.
  • In the C-terminal section; belongs to the peptidase M41 family.
genes like me logo Genes that share domains with AFG3L2: view

Function for AFG3L2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for AFG3L2 Gene

GENATLAS Biochemistry:
ATPases yeast AFG3 and RCA1 gene homolog,family gene 3-like 2,paraplegin related gene,highly expressed in heart and skeletal muscle
UniProtKB/Swiss-Prot Function:
ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU.

Enzyme Numbers (IUBMB) for AFG3L2 Gene

Gene Ontology (GO) - Molecular Function for AFG3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding IPI 14623864
GO:0005524 ATP binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IMP 27642048
genes like me logo Genes that share ontologies with AFG3L2: view
genes like me logo Genes that share phenotypes with AFG3L2: view

Human Phenotype Ontology for AFG3L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AFG3L2

CRISPR Products

miRNA for AFG3L2 Gene

miRTarBase miRNAs that target AFG3L2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for AFG3L2 Gene

Localization for AFG3L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFG3L2 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AFG3L2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AFG3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IDA --
GO:0005743 mitochondrial inner membrane TAS,IEA --
GO:0005745 m-AAA complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AFG3L2: view

Pathways & Interactions for AFG3L2 Gene

SuperPathways for AFG3L2 Gene

PathCards logo More details on SuperPathways for AFG3L2
No Data Available

Gene Ontology (GO) - Biological Process for AFG3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IMP 27642048
GO:0006851 mitochondrial calcium ion transport TAS --
GO:0007005 mitochondrion organization IEA --
GO:0007409 axonogenesis IMP 27642048
GO:0007528 neuromuscular junction development IEA --
genes like me logo Genes that share ontologies with AFG3L2: view

No data available for Pathways by source and SIGNOR curated interactions for AFG3L2 Gene

Drugs & Compounds for AFG3L2 Gene

Products:

  1. Drug

(1) Drugs for AFG3L2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
genes like me logo Genes that share compounds with AFG3L2: view

Transcripts for AFG3L2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for AFG3L2 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(294) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AFG3L2 Gene

AFG3 ATPase family member 3-like 2 (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFG3L2 Gene

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

Relevant External Links for AFG3L2 Gene

GeneLoc Exon Structure for
AFG3L2
ECgene alternative splicing isoforms for
AFG3L2

Expression for AFG3L2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AFG3L2 Gene

mRNA expression in normal human tissues for AFG3L2 Gene
mRNA expression by BioGPS for AFG3L2 GenemRNA expression by GTEx for AFG3L2 Gene

mRNA differential expression in normal tissues according to GTEx for AFG3L2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.7).

Protein differential expression in normal tissues from HIPED for AFG3L2 Gene

This gene is overexpressed in Heart (8.1), Nasal epithelium (7.4), and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AFG3L2 Gene



Protein tissue co-expression partners for AFG3L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AFG3L2 Gene:

AFG3L2

SOURCE GeneReport for Unigene cluster for AFG3L2 Gene:

Hs.726355

mRNA Expression by UniProt/SwissProt for AFG3L2 Gene:

Q9Y4W6-AFG32_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in the cerebellar Purkinje cells.

Evidence on tissue expression from TISSUES for AFG3L2 Gene

  • Eye(4.5)
  • Liver(4.3)
  • Nervous system(4.1)
  • Skin(2.8)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AFG3L2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AFG3L2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for AFG3L2 Gene

Orthologs for AFG3L2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AFG3L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AFG3L2 34 35
  • 99.67 (n)
dog
(Canis familiaris)
 Mammalia AFG3L2 34 35
  • 91.22 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia AFG3L2 35
  • 91 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia AFG3L2 35
  • 87 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Afg3l2 34
  • 86.2 (n)
cow
(Bos Taurus)
 Mammalia AFG3L2 34 35
  • 86.01 (n)
mouse
(Mus musculus)
 Mammalia Afg3l2 34 16 35
  • 85.18 (n)
chicken
(Gallus gallus)
 Aves AFG3L2 34 35
  • 76.7 (n)
lizard
(Anolis carolinensis)
 Reptilia AFG3L2 35
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia afg3l2 34
  • 74.4 (n)
zebrafish
(Danio rerio)
 Actinopterygii afg3l2 34 35
  • 71.71 (n)
Dr.14054 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10435 34
fruit fly
(Drosophila melanogaster)
 Insecta CG6512 36 34 35
  • 61.38 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006949 34
  • 59.87 (n)
worm
(Caenorhabditis elegans)
 Secernentea spg-7 34 35
  • 60.9 (n)
Y47C4A.1 36 35
  • 51 (a)
Y108F1.1 35
  • 44 (a)
 OneToMany
Y73B3A.21 35
  • 43 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AFG3 34
  • 58.25 (n)
YTA12 35 37
  • 43 (a)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AAR025C 34
  • 57.97 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons ftsh10 34
  • 59.12 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.7456 34
rice
(Oryza sativa)
 Liliopsida Os01g0842600 34
  • 59.59 (n)
barley
(Hordeum vulgare)
 Liliopsida Hv.4858 34
wheat
(Triticum aestivum)
 Liliopsida Ta.1329 34
corn
(Zea mays)
 Liliopsida Zm.5595 34
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 65 (a)
 OneToOne
Species where no ortholog for AFG3L2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AFG3L2 Gene

ENSEMBL:
Gene Tree for AFG3L2 (if available)
TreeFam:
Gene Tree for AFG3L2 (if available)

Paralogs for AFG3L2 Gene

(13) SIMAP similar genes for AFG3L2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for AFG3L2 Gene

genes like me logo Genes that share paralogs with AFG3L2: view

No data available for Paralogs for AFG3L2 Gene

Variants for AFG3L2 Gene

Sequence variations from dbSNP and Humsavar for AFG3L2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs151344512 Pathogenic, Spinocerebellar ataxia 28 (SCA28) [MIM:610246] 12,353,028(-) ACTCA(A/C)CCAGC reference, missense
rs151344513 Pathogenic, Spinocerebellar ataxia 28 (SCA28) [MIM:610246] 12,340,220(-) AGTAA(C/T)TCAGA intron-variant, reference, missense
rs151344514 Pathogenic, Spinocerebellar ataxia 28 (SCA28) [MIM:610246] 12,337,520(-) TTGGC(A/G/T)TGAAT upstream-variant-2KB, reference, missense
rs151344515 Pathogenic, Spinocerebellar ataxia 28 (SCA28) [MIM:610246], Spinocerebellar ataxia 28 (SCA28) [MIM:610246] 12,337,519(-) TGGCA(C/G/T)GAATG upstream-variant-2KB, reference, missense
rs151344517 Pathogenic, Spinocerebellar ataxia 28 (SCA28) [MIM:610246] 12,337,505(-) AGGTT(A/G)GGCAA upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AFG3L2 Gene

Variant ID Type Subtype PubMed ID
esv2758714 CNV loss 17122850
esv3641836 CNV loss 21293372
nsv1060808 CNV gain 25217958
nsv1063125 CNV loss 25217958
nsv576496 CNV gain 21841781
nsv819744 CNV loss 19587683

Variation tolerance for AFG3L2 Gene

Residual Variation Intolerance Score: 5.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AFG3L2 Gene

Human Gene Mutation Database (HGMD)
AFG3L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AFG3L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFG3L2 Gene

Disorders for AFG3L2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for AFG3L2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 28
  • spinocerebellar ataxia type 28
ataxia, spastic, 5, autosomal recessive
  • spastic ataxia 5, autosomal recessive
spastic ataxia 5
  • spastic ataxia 5, autosomal recessive
spinocerebellar ataxia type28
  • spinocerebellar ataxia 28
spastic ataxia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AFG32_HUMAN
  • Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487]: A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. {ECO:0000269 PubMed:22022284}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia 28 (SCA28) [MIM:610246]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment. {ECO:0000269 PubMed:20208537, ECO:0000269 PubMed:20354562, ECO:0000269 PubMed:20725928, ECO:0000269 PubMed:24293060, ECO:0000269 PubMed:26677414}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AFG3L2

Genetic Association Database (GAD)
AFG3L2
Human Genome Epidemiology (HuGE) Navigator
AFG3L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFG3L2
genes like me logo Genes that share disorders with AFG3L2: view

No data available for Genatlas for AFG3L2 Gene

Publications for AFG3L2 Gene

  1. Identification and characterization of AFG3L2, a novel paraplegin- related gene. (PMID: 10395799) Banfi S. … Franco B. (Genomics 1999) 2 3 4 22 64
  2. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. (PMID: 14623864) Atorino L. … Casari G. (J. Cell Biol. 2003) 3 4 22 64
  3. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 4 64
  4. The m-AAA protease associated with neurodegeneration limits MCU activity in mitochondria. (PMID: 27642048) Koenig T. … Langer T. (Mol. Cell 2016) 3 4 64
  5. A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28. (PMID: 24293060) LAPbbe A.M. … Nolte D. (J. Mol. Neurosci. 2013) 3 4 64

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