Gene: CFAP410

Alternate names for this Gene: C21orf2|LRRC76|RDMS|SMDAX|YF5/A2

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: cilia and flagella associated protein 410

Type of Gene: protein-coding

rs75087725 in CFAP410 gene and Amyotrophic Lateral Sclerosis PMID 27455348 2016 Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

PMID 29566793 2018 Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

rs1131690801 in CFAP410 gene and RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA PMID 26294103 2015 C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.

PMID 27548899 2016 Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.

rs140451304 in CFAP410 gene and Spondylometaphyseal dysplasia, axial PMID 27548899 2016 Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.

PMID 26167768 2015 An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

PMID 26974433 2016 Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

PMID 28422394 2017 Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.