Description: Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 2, mRNA. RefSeq Summary (NM_001122769): This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]. Transcript (Including UTRs) Position: hg19 chr6:80,194,708-80,247,147 Size: 52,440 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr6:80,196,721-80,228,611 Size: 31,891 Coding Exon Count: 7
ID:LCA5_HUMAN DESCRIPTION: RecName: Full=Lebercilin; AltName: Full=Leber congenital amaurosis 5 protein; FUNCTION: Might be involved in minus end-directed microtubule transport. SUBUNIT: Interacts with NINL. Interacts with OFD1. Interacts with FAM161A. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, centrosome. Note=In non- ciliated cells, localizes to the centrosome and its associated microtubule array. DISEASE: Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5) [MIM:604537]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. SIMILARITY: Belongs to the LCA5 family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): LCA5 CDC HuGE Published Literature: LCA5 Positive Disease Associations: Obsessive-Compulsive Disorder Related Studies:
Obsessive-Compulsive Disorder Nader Perroud et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2011, Genome-wide association study of hoarding traits., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic.
[PubMed 21302353]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q86VQ0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
