CFAP410

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]

Description

cilia and flagella associated protein 410

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

21:q22.3 (44328944 - 44339402)

Ensembl ID

ENSG00000160226  (ver. 99.38)

Orthologs

Mouse Cfap410: ENSMUSG00000020284

UniProt

O43822

neXtProt

NX_O43822

Human splice variants
Mouse splice variants