CRYM

From Wikipedia, the free encyclopedia


Crystallin, mu
PDB rendering based on 2i99.
Available structures: 2i99
Identifiers
Symbol(s) CRYM; DFNA40; THBP
External IDs OMIM: 123740 MGI: 102675 HomoloGene: 1424
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1428 12971
Ensembl ENSG00000103316 ENSMUSG00000030905
Uniprot Q14894 Q3UPX0
Refseq NM_001014444 (mRNA)
NP_001014444 (protein)		 NM_016669 (mRNA)
NP_057878 (protein)
Location Chr 16: 21.18 - 21.2 Mb Chr 7: 119.98 - 119.99 Mb
Pubmed search [1] [2]

Crystallin, mu, also known as CRYM, is a human gene.[1]

Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Multiple alternatively spliced transcript variants have been found for this gene.[1]

[edit] References

  1. ^ a b Entrez Gene: CRYM crystallin, mu.

[edit] Further reading

  • Kim RY, Gasser R, Wistow GJ (1992). "mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina.". Proc. Natl. Acad. Sci. U.S.A. 89 (19): 9292–6. PMID 1384048. 
  • Chen H, Phillips HA, Callen DF, et al. (1993). "Localization of the human gene for mu-crystallin to chromosome 16p.". Genomics 14 (4): 1115–6. PMID 1478656. 
  • Vié MP, Blanchet P, Samson M, et al. (1996). "High affinity thyroid hormone-binding protein in human kidney: kinetic characterization and identification by photoaffinity labeling.". Endocrinology 137 (11): 4563–70. PMID 8895318. 
  • Segovia L, Horwitz J, Gasser R, Wistow G (1998). "Two roles for mu-crystallin: a lens structural protein in diurnal marsupials and a possible enzyme in mammalian retinas.". Mol. Vis. 3: 9. PMID 9285773. 
  • Vié MP, Evrard C, Osty J, et al. (1998). "Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein.". Mol. Endocrinol. 11 (11): 1728–36. PMID 9328354. 
  • Loftus BJ, Kim UJ, Sneddon VP, et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.". Genomics 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829. 
  • Abe S, Katagiri T, Saito-Hisaminato A, et al. (2003). "Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.". Am. J. Hum. Genet. 72 (1): 73–82. PMID 12471561. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Reed PW, Corse AM, Porter NC, et al. (2007). "Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy.". Exp. Neurol. 205 (2): 583–6. doi:10.1016/j.expneurol.2007.03.009. PMID 17451686. 
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