Gene: C19orf12

Alternate names for this Gene: MPAN|NBIA3|NBIA4|SPG43

Gene Summary: This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q12

Description of this Gene: chromosome 19 open reading frame 12

Type of Gene: protein-coding

rs1204865094 in C19orf12 gene and NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 PMID 26187298 2015 Behr syndrome with homozygous C19ORF12 mutation.

PMID 22508347 2012 A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

PMID 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⁺.

PMID 21981780 2011 Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

PMID 23857908 2013 Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 22704260 2012 C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

PMID 23278385 2013 Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

PMID 23269600 2013 New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

PMID 22584950 2012 C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

PMID 23521069 2014 A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.

PMID 23436634 2013 Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

PMID 24209434 2013 Mitochondrial membrane protein-associated neurodegeneration (MPAN).

PMID 28347615 2017 The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.

PMID 23166001 2013 PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

PMID 23494994 2013 Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.

rs515726205 in C19orf12 gene and SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE PMID 23269600 2013 New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

PMID 23857908 2013 Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

PMID 23494994 2013 Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.

PMID 21981780 2011 Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

rs200133991 in C19orf12 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.