RD3

GENE INFORMATION

? »

Gene name

RD3 (HGNC Symbol)

Synonyms

C1orf36, LCA12

Description

Retinal degeneration 3 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1

Cytoband

q32.3

Chromosome location (bp)

211649864 - 211666259

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198570 (version 75.37)

Entrez gene

343035

UniProt

Q7Z3Z2 (UniProt - Evidence at transcript level)

neXtProt

NX_Q7Z3Z2

Antibodypedia

RD3 antibodies
 

PROTEIN VIEW

? »
 
 
 
RD3-001
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RD3-001 ENSP00000355969
ENST00000367002
Q7Z3Z2
Show all »
Show » Show » 195 22.7 No 0