EvC ciliary complex subunit 1

Alternative Names

  • EVC
  • EVC1

Associated Diseases

Ellis-van Creveld Syndrome
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OMIM Number

604831

NCBI Gene ID

2121

Uniprot ID

P57679

Length

117,845 bases

No. of Exons

30

No. of isoforms

1

Protein Name

Ellis-van Creveld syndrome protein

Molecular Mass

111,990 Da

Amino Acid Count

992

Genomic Location

chr4:5,711,199-5,829,043

Gene Map Locus
4p16.2

Description

The EVC gene encodes Ellis-van Creveld syndrome protein, which is a component of EvC complex. This protein has a role in endochondral growth and skeletal development. It is also involved in the regulation of ciliary Hedgehog signaling.

Defects in the EVC gene lead to the development of Ellis-van Creveld syndrome. This autosomal recessive disease is characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Mutations in the EVC gene is also responsible for a milder condition called Weyers acrodental dysostosis.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_153717.3:c.101dupSaudi ArabiaNC_000004.12:g.5711481dupLikely PathogenicEllis-van Creveld SyndromeNG_008843.1:g.5285dup; NM_153717.3:c.101dup; NP_714928.1:p.Ala36ArgfsTer37
NM_153717.3:c.1813C>TSudanchr4:5793644PathogenicPathogenicEllis-van Creveld SyndromeNG_008843.1:g.87448C>T; NM_153717.3:c.1813C>T; NP_714928.1:p.Gln605Ter1553889992555660

Other Reports

Egypt

Temtamy et al. (2008) reported affected individuals with both the EVC and EVC2 genes inactivated on each allele. Affected subjects were born to a consanguineous family diagnosed with EvC and borderline intelligence. Temtamy et al. (2008) detected a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between long interspersed nuclear element-1 (LINE-1 or L1) elements. Patients homozygous for the deletion are deficient in EVC and EVC2 and have no increase in the severity of the EvC typical features. Similarly deletion carriers demonstrate absence of digenic inheritance in EvC. Temtamy et al. (2008) suggested that the EVC-STK32B deletion also leads to mild mental retardation and reveals that loss of the novel genes C4orf6 and STK32B causes at most mild mental deficit. In an EvC compound heterozygote of different ethnic origin, Temtamy et al. (2008) identified the same LINE-to-LINE rearrangement due to a different recombination event.

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