CRX (gene)

Source: Wikipedia, the free encyclopedia.


CRX
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_000554

NM_001113330
NM_007770

RefSeq (protein)

NP_000545

NP_001106801
NP_031796

Location (UCSC)Chr 19: 47.82 – 47.84 MbChr 7: 15.6 – 15.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.[5][6][7]

Function

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.

Leber's 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.[7]

Mammalian CRX encodes a 299 amino acid protein containing a DNA binding homeodomain (HD) near its N-terminus followed by glutamine rich (Gln), and basic amino acid regions, then a C-terminal transactivation domain (AD).[8] While structural biochemistry has demonstrated that the CRX HD adopts a canonical homeodomain protein fold, the AD is predicted to be flexible and disordered. The structural attributes of the CRX AD have yet to be solved.[9]

Evolution

CRX is a divergent duplicate of OTX produced during the 2 rounds of vertebrate whole genome duplication.[10]

In the eutherian mammals, CRX has again duplicated by tandem gene duplication, with six ancestral duplicates, which are collectively referred to as ETCHbox genes.[11]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105392 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041578 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. S2CID 5755412
    .
  6. .
  7. ^ a b "Entrez Gene: CRX cone-rod homeobox".
  8. PMID 24516401
    .
  9. .
  10. .
  11. .

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.