Search Antibody, Protein, and ELISA Kit Solutions


Gene ID: 83636 | C19orf12 Antibody Resource


C19orf12 Antibody Resource
Gene Full Name: 
chromosome 19 open reading frame 12
Uniprot: 
Q9NSK7
Protein Name: 
protein C19orf12
Nucleotide: 
NM_001256047
Alias: 
NBIA3;NBIA4;SPG43;
Ensembl: 
Location: 
19q12
HPRD: 
12696
NCBI Gene: 
83636
MIM: 
614297

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. [provided by RefSeq, Dec 2011]
Function: 
Subcellular location: 
Mitochondrion. Mitochondrion membrane; Single-pass membrane protein Potential .
PTM: 
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. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody OAAB11052 C19orf12 antibody - N - terminal region (OAAB11052) Human WB 400ul $289 Details

Show all C19orf12 antibodies


Product Images
C19orf12 Protocols

Publications
Related Gene Trend Categories
Species
Tissue & Cell Line Gene Expression Data