Cone-Rod Homeobox-Containing Gene

Alternative Names

Length

23,552 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000554.4:c.(100+1_101-1)_(c.900+1_?)del	United Arab Emirates			Likely Pathogenic	Cone-Rod Dystrophy 2	NM_000554.4:c.(100+1_101-1)_(c.900+1_?)del
NM_000554.6:c.274G>A	Saudi Arabia	NC_000019.10:g.47839341G>A	Likely Pathogenic, Uncertain Significance	Pathogenic	Retinitis Pigmentosa	NG_008605.1:g.22500G>A; NM_000554.6:c.274G>A; NP_000545.1:p.Ala92Thr	786205521	191106
NM_000554.6:c.425A>G	Saudi Arabia	NC_000019.10:g.47839492A>G	Benign, Likely Benign, Uncertain Significance	Likely Pathogenic	Retinitis Pigmentosa	NG_008605.1:g.22651A>G; NM_000554.6:c.425A>G; NP_000545.1:p.Tyr142Cys	61748442	99605
NM_000554.6:c.695del	Saudi Arabia	NC_000019.10:g.47839762del	Likely Pathogenic	Pathogenic	Retinitis Pigmentosa	NG_008605.1:g.22921del; NM_000554.6:c.695del; NP_000545.1:p.Pro232ArgfsTer139	786205630	191298

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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.

External Links

https://medlineplus.gov/genetics/gene/crx/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=CRX https://www.ncbi.nlm.nih.gov/gene/1406

Contributors

Pratibha Nair: 20.04.2021
Pratibha Nair: 22.09.2020

Edit History

Pratibha Nair: 15.06.2022
Pratibha Nair: 20.04.2021
Pratibha Nair: 22.09.2020

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