MitoProteome Database

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MT001377

UniProt Annotations

Entry Information

Gene Name	chromosome 19 open reading frame 12
Protein Entry	CS012_HUMAN
UniProt ID	Q9NSK7
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=4; IsoId=Q9NSK7-1; Sequence=Displayed; Name=2; IsoId=Q9NSK7-2; Sequence=VSP_027227; Name=3; IsoId=Q9NSK7-3; Sequence=VSP_037995, VSP_027228; Name=1; IsoId=Q9NSK7-4; Sequence=VSP_037995;
Disease	Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]: 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. {ECO:0000269\|PubMed:21981780, ECO:0000269\|PubMed:22508347, ECO:0000269\|PubMed:22584950, ECO:0000269\|PubMed:23269600, ECO:0000269\|PubMed:23521069, ECO:0000269\|PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]: 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. {ECO:0000269\|PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Induction	Up-regulated during adipocyte differentiation in an in vitro preadipocyte differentiation model. {ECO:0000269\|PubMed:21981780}.
Subcellular Location	Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein.