Property Summary

NCBI Gene PubMed Count 25
Grant Count 3
Funding $499,578.39
PubMed Score 22.74
PubTator Score 26.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytic glioma -1.800 0.005
ependymoma -1.800 0.009
oligodendroglioma -1.900 0.006
osteosarcoma 2.486 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
glioblastoma -1.500 0.000
medulloblastoma, large-cell -1.400 0.000
pancreatic ductal adenocarcinoma liver m... -1.536 0.005
breast carcinoma -1.500 0.000
fibroadenoma -1.700 0.024
adult high grade glioma -1.400 0.000
ductal carcinoma in situ -1.900 0.001
invasive ductal carcinoma -1.900 0.006
ovarian cancer 1.500 0.000

Synonym

Accession Q9NSK7 B3KQ16 Q0D2Q0 Q6P4C5 Q9BSL7
Symbols MPAN
NBIA3
NBIA4
SPG43

Gene

Gene RIF (11)

PMID Text
26714052 Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
26187298 Two Turkish sisters with Behr syndrome with homozygous C19ORF12 mutation
25962551 In several families with neurodegeneration with brain iron accumulation, novel mutations were found in the C19orf12 gene.
25668476 Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN
23857908 Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
23494994 Subsequent testing detected compound heterozygous mutations in c19orf12 consistent with mitochondrial membrane protein-associated neurodegeneration
23166001 Mutations in both PANK2 and C19orf12 contributed significantly to neurodegeneration with brain iron accumulation in the Iranian patients
22704260 This study identified 3 patients carrying novel mutations in the C19orf12 gene in patients with neurodegeneration with brain iron accumulation.
22691760 Mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from Neurodegeneration with brain iron accumulation.
22584950 Sequence analysis of C19orf12 revealed a novel mutation, p.Gly66del, in patients with neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
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AA Sequence

MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGG      1 - 70
LLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYV     71 - 140
TKELRAEIQYDD                                                              141 - 152
//

Text Mined References (26)

PMID Year Title
27772766 2016 Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).
26714052 2016 Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
26187298 2015 Behr syndrome with homozygous C19ORF12 mutation.
26136767 2015 Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²?.
25962551 2015 C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.
25668476 2015 Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.
24636776 Mitochondrial protein associated neurodegeneration - case report.
24586779 2014 Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.
24209434 2013 Mitochondrial membrane protein-associated neurodegeneration (MPAN).
23857908 2013 Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
More...