NP_001158160.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
22,704 Da
NCBI Official Full Name
protein RD3
NCBI Official Synonym Full Names
retinal degeneration 3
NCBI Protein Information
protein RD3
UniProt Protein Name
Protein RD3
UniProt Synonym Protein Names
Retinal degeneration protein 3
UniProt Synonym Gene Names
UniProt Entry Name
RD3_HUMAN
NCBI Summary for RD3
This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
UniProt Comments for RD3
RD3: Defects in RD3 are the cause of Leber congenital amaurosis type 12 (LCA12). 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.
Chromosomal Location of Human Ortholog: 1q32.3
Molecular Function: protein binding
Biological Process: response to stimulus; retina development in camera-type eye; visual perception
Disease: Leber Congenital Amaurosis 12
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Products associated with anti-RD3 antibody
Diseases associated with anti-RD3 antibody
Organs/Tissues associated with anti-RD3 antibody
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