FIGURE: 1 / 2
Peptide sequence: KLTRKMVLTR AKASELHSVR KLNCWGSRLT DISICQEMPS LEVITLSVNS
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 93%; Rat: 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.
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