Cone-Rod Homeobox-Containing Gene

Alternative Names

  • CRX
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OMIM Number

602225

NCBI Gene ID

1406

Uniprot ID

O43186

Length

23,552 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Cone-rod homeobox protein

Molecular Mass

32261 Da

Amino Acid Count

299

Genomic Location

chr19:47,819,779-47,843,330

Gene Map Locus
19q13.33

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000554.4:c.(100+1_101-1)_(c.900+1_?)delUnited Arab EmiratesLikely PathogenicCone-Rod Dystrophy 2NM_000554.4:c.(100+1_101-1)_(c.900+1_?)del
NM_000554.6:c.274G>ASaudi ArabiaNC_000019.10:g.47839341G>ALikely Pathogenic, Uncertain SignificancePathogenicRetinitis PigmentosaNG_008605.1:g.22500G>A; NM_000554.6:c.274G>A; NP_000545.1:p.Ala92Thr786205521191106
NM_000554.6:c.425A>GSaudi ArabiaNC_000019.10:g.47839492A>GBenign, Likely Benign, Uncertain SignificanceLikely PathogenicRetinitis PigmentosaNG_008605.1:g.22651A>G; NM_000554.6:c.425A>G; NP_000545.1:p.Tyr142Cys6174844299605
NM_000554.6:c.695delSaudi ArabiaNC_000019.10:g.47839762delLikely PathogenicPathogenicRetinitis PigmentosaNG_008605.1:g.22921del; NM_000554.6:c.695del; NP_000545.1:p.Pro232ArgfsTer139786205630191298

Other Reports

Lebanon

Ibrahim et al. (2018) described a consanguineous Lebanese family in which three cousins were affected with LCA. All three carried complete homozygous CRX deletions resulting in nullizygosity. Of the four heterozygous parents, two  showed significant but subclinical inner and outer foveal abnormalities.

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