Cilia- and Flagella-Associated Protein 410

Alternative Names

  • CFAP410
  • Chromosome 21 Open Reading Frame 2
  • C21orf2
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OMIM Number

603191

NCBI Gene ID

755

Uniprot ID

O43822

Length

10,474 bases

No. of Exons

10

No. of isoforms

4

Protein Name

Cilia- and flagella-associated protein 410

Molecular Mass

28340 Da

Amino Acid Count

256

Genomic Location

chr21:44,328,943-44,339,416

Gene Map Locus
21q22.3

Description

CFAP410 gene encodes cilia- and flagella-associated protein 410.  This protein is suggested to have a role in the formation and maintenance of cilia and ciliary cargo transport.  It has also been hypothesized to have a role in the regulation of cell morphology, and cytoskeletal organization, particularly in the retina. 

Defects in CFAP410 are associated with retinitis pigmentosa with skeletal defects, as in the case of Spondylometaphyseal Dysplasia Axial (Axial SMD), as well as with non-syndromic cone rod dystrophy.  In addition, mutations in this gene have been associated with Jeune Syndrome, a form of short-rib thoracic dysplasia characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001271440.1:c.640-23A>TSaudi ArabiaNC_000021.9:g.44330349T>APathogenicPathogenicSpondylometaphyseal Dysplasia, AxialNG_032952.1:g.14054A>T; NM_001271440.1:c.640-23A>T1131690800428579
NM_004928.3:c.103delSaudi ArabiaNC_000021.9:g.44335798delPathogenicLikely PathogenicSpondylometaphyseal Dysplasia, AxialNG_032952.1:g.8605del; NM_004928.3:c.103del; NP_001258369.1:p.Ile35PhefsTer101114167893428575

Other Reports

Saudi Arabia

Wang et al., (2016) described 13 patients from nine families with Axial Spodylometaphyseal Dysplasia (SMD).  Three of these patients belonged to two Saudi families.  Exome sequencing identified the same novel bi-allelic mutation in C21orf2 in both the families.  This was an intronic mutation, c.643-23A>T (p.N215Vfs*259) which was confirmed by Sanger sequencing.  The latter mutation is a branch-point one, and it resulted in lack of splicing for intron 6 and an elongated reading frame. The authors concluded that C21orf2 was a causative gene for axial SMD and suggested further studies to clarify the role of this gene on skeletal development and retinal function. 

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