Leberilin LCA5

Alternative Names

  • LCA5
  • Lebercilin
  • Chromosome 6 Open Reading Frame 152
  • C6ORF152
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OMIM Number

611408

NCBI Gene ID

167691

Uniprot ID

Q86VQ0

Length

52,440 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Lebercilin

Molecular Mass

80554 Da

Amino Acid Count

697

Genomic Location

chr6:79,484,990-79,537,429

Gene Map Locus
6q14.1

Description

LCA5 gene encodes lebercilin, a protein whose function is yet to be fully characterized. It is believed to play a role in minus end-directed microtubule transport as well as centrosomal and ciliary functions. Mutations in the LCA5 gene have been associated with Leber Congenital Amaurosis 5 (LCA5), an early onset ocular disorder characterized by retinal dystrophy, vision loss and nystagmus.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_181714.4:c.923delUnited Arab EmiratesNC_000006.12:g.79492585delLikely PathogenicLeber Congenital Amaurosis 5NG_016011.1:g.49848del; NM_181714.4:c.923del; NP_859065.2:p.Asn308IlefsTer8

Other Reports

Saudi Arabia

Monies et al. (2017) illustrated the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 3-year-old male, suffered from an atrial septal defect, failure to thrive, growth retardation, fine/gross motor delay, speech delay, learning disability, stereotypic behaviors, cleft lip, blindness and congenital heart disease. Using whole exome sequencing, a homozygous mutation (c.763C>T, p.R255X) was identified in exon 4 of the patient’s LCA5 gene. This mutation explained the phenotype of LCA, while the remaining congenital anomalies were attributed to an additional unidentified variant.

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