CRX

GENE INFORMATION

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Gene name

CRX (HGNC Symbol)

Synonyms

CORD2, CRD, LCA7, OTX3

Description

Cone-rod homeobox (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

Chromosome

19

Cytoband

q13.33

Chromosome location (bp)

47819779 - 47843330

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000105392 (version 78.38)

Entrez gene

1406

UniProt

O43186 (UniProt - Evidence at protein level)

neXtProt

NX_O43186

Antibodypedia

CRX antibodies
 

PROTEIN VIEW

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CRX-001
 
CRX-005
 
CRX-008
 
CRX-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CRX-001 ENSP00000221996
ENST00000221996
O43186
Show all »
Show » Show » 299 32.3 No 0
CRX-005 ENSP00000457808
ENST00000566686
H3BUU7
Show all »
Show » Show » 57 6.4 No 0
CRX-008 ENSP00000478106
ENST00000613299
Show » 41 4.4 No 0
CRX-201 ENSP00000445565
ENST00000539067
O43186
Show all »
Show » Show » 299 32.3 No 0