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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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
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