Entity Details

Primary name C19orf12
Entity type gene
Source Source Link

Details

PrimaryID83636
RefseqGeneNG_031970
SymbolC19orf12
Namechromosome 19 open reading frame 12
Chromosome19
Location19q12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCS012_HUMAN

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0006914 autophagy
GO:0006915 apoptotic process
GO:0006979 response to oxidative stress
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
GO:0051560 mitochondrial calcium ion homeostasis

Diseases

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Disease IDSourceNameDescription
614298 OMIMNeurodegeneration with brain iron accumulation 4 (NBIA4)A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. The disease is caused by variants affecting the gene represented in this entry.
615043 OMIMSpastic paraplegia 43, autosomal recessive (SPG43)A form of spastic paraplegia, 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. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
C19orf12IKBKGBioGRID, IntAct20098747 details
C19orf12APPBioGRID21832049 details