FIGURE: 1 / 1
Peptide sequence: DPLDSEEEAT SGAQDERGLK PPSRGQFPSL SARDASSSHR GRNVLTAILL
Sequence homology: Human: 100%
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.
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Protein Aliases: C21orf-HUMF09G8.5; cDNA A2-YF5; Cilia- and flagella-associated protein 410; cu002; leucine rich repeat containing 76; Leucine-rich repeat-containing protein 76; YF5; YF5/A2
Gene Aliases: C21orf2; CFAP410; LRRC76; YF5/A2
UniProt ID: (Human) O43822
Entrez Gene ID: (Human) 755