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

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Mitochondria, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

21 (44328944 - 44339402)

Ensembl ID

ENSG00000160226  (ver. 103.38)

Orthologs

Mouse Cfap410: ENSMUSG00000020284

UniProt

O43822

neXtProt

NX_O43822

Human splice variants
Mouse splice variants

Protein structure