NP_001116241.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
80,554 Da
NCBI Official Full Name
lebercilin
NCBI Official Synonym Full Names
Leber congenital amaurosis 5
NCBI Official Synonym Symbols
NCBI Protein Information
lebercilin
UniProt Protein Name
Lebercilin
UniProt Synonym Protein Names
Leber congenital amaurosis 5 protein
UniProt Synonym Gene Names
UniProt Entry Name
LCA5_HUMAN
NCBI Summary for LCA5
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]
UniProt Comments for LCA5
LCA5: Might be involved in minus end-directed microtubule transport. Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5). 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. Belongs to the LCA5 family.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 6q14.1
Cellular Component: axoneme; cilium
Molecular Function: protein binding; protein complex binding
Biological Process: intraflagellar transport; photoreceptor cell maintenance
Disease: Leber Congenital Amaurosis 5
Research Articles on LCA5
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Products associated with LCA5 elisa kit
Diseases associated with LCA5 elisa kit
Organs/Tissues associated with LCA5 elisa kit
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