UniProt Protein Function: | C21orf2: 2 isoforms of the human protein are produced by alternative splicing.Protein type: Unknown functionChromosomal Location of Human Ortholog: 21q22.3Cellular Component: cytoplasm; mitochondrion; photoreceptor connecting cilium; plasma membraneMolecular Function: protein bindingBiological Process: cytoskeleton organization and biogenesis; regulation of cell shape |
UniProt Protein Details: | |
NCBI Summary: | Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012] |
UniProt Code: | O43822 |
NCBI GenInfo Identifier: | 3334131 |
NCBI Gene ID: | 755 |
NCBI Accession: | O43822.1 |
UniProt Secondary Accession: | O43822,O14993, Q8N5X6, Q99837, Q99838, A8MPS9 |
UniProt Related Accession: | O43822 |
Molecular Weight: | 40,422 Da |
NCBI Full Name: | Protein C21orf2 |
NCBI Synonym Full Names: | chromosome 21 open reading frame 2 |
NCBI Official Symbol: | C21orf2Â Â |
NCBI Official Synonym Symbols: | LRRC76; YF5/A2Â Â |
NCBI Protein Information: | nuclear encoded mitochondrial protein C21orf2; protein C21orf2 |
UniProt Protein Name: | Protein C21orf2 |
UniProt Synonym Protein Names: | C21orf-HUMF09G8.5; Leucine-rich repeat-containing protein 76; YF5/A2 |
Protein Family: | Protein |
UniProt Gene Name: | C21orf2Â Â |
UniProt Entry Name: | CU002_HUMAN |