CRYGC
Crystallin, gamma C, also known as CRYGC, is a protein which in humans is encoded by the CRYGC gene.[4][5]
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| Aliases | CRYGC, CCL, CRYG3, CTRCT2, crystallin gamma C | ||||||||||||||||||||||||
| External IDs | OMIM: 123680 MGI: 88523 HomoloGene: 36281 GeneCards: CRYGC | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 2: 208.13 – 208.13 Mb | n/a | |||||||||||||||||||||||
| PubMed search | [2] | [3] | |||||||||||||||||||||||
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Function
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation.[5]
References
- ENSG00000285011 GRCh38: Ensembl release 89: ENSG00000163254, ENSG00000285011 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- den Dunnen JT, Moormann RJ, Cremers FP, Schoenmakers JG (1985). "Two human gamma-crystallin genes are linked and riddled with Alu-repeats". Gene. 38 (1–3): 197–204. doi:10.1016/0378-1119(85)90218-5. PMID 4065573.
- "Entrez Gene: CRYGC crystallin, gamma C".
- Fu L, Liang JJ (February 2002). "Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay". The Journal of Biological Chemistry. 277 (6): 4255–60. doi:10.1074/jbc.M110027200. PMID 11700327.
External links
- Human CRYGC genome location and CRYGC gene details page in the UCSC Genome Browser.
Further reading
- Graw J (November 1997). "The crystallins: genes, proteins and diseases". Biological Chemistry. 378 (11): 1331–48. doi:10.1515/bchm.1997.378.11.1299. PMID 9426193.
- Slingsby C, Clout NJ (June 1999). "Structure of the crystallins". Eye. 13. 13 ( Pt 3b) (3): 395–402. doi:10.1038/eye.1999.113. PMID 10627816.
- Hearne CM, Todd JA (October 1991). "Trinucleotide repeat polymorphism at the CRYG1 locus". Nucleic Acids Research. 19 (19): 5450. doi:10.1093/nar/19.19.5450-a. PMC 328932. PMID 1923840.
- Brakenhoff RH, Aarts HJ, Reek FH, Lubsen NH, Schoenmakers JG (December 1990). "Human gamma-crystallin genes. A gene family on its way to extinction". Journal of Molecular Biology. 216 (3): 519–32. doi:10.1016/0022-2836(90)90380-5. PMID 2258929.
- den Dunnen JT, van Neck JW, Cremers FP, Lubsen NH, Schoenmakers JG (May 1989). "Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region". Gene. 78 (2): 201–13. doi:10.1016/0378-1119(89)90223-0. PMID 2777080.
- Shiloh Y, Donlon T, Bruns G, Breitman ML, Tsui LC (May 1986). "Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36". Human Genetics. 73 (1): 17–9. doi:10.1007/BF00292656. PMID 3011643.
- Lubsen NH, Renwick JH, Tsui LC, Breitman ML, Schoenmakers JG (January 1987). "A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family". Proceedings of the National Academy of Sciences of the United States of America. 84 (2): 489–92. Bibcode:1987PNAS...84..489L. doi:10.1073/pnas.84.2.489. PMC 304234. PMID 3025877.
- Meakin SO, Du RP, Tsui LC, Breitman ML (August 1987). "Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family". Molecular and Cellular Biology. 7 (8): 2671–9. doi:10.1128/mcb.7.8.2671. PMC 367883. PMID 3670288.
- Meakin SO, Breitman ML, Tsui LC (June 1985). "Structural and evolutionary relationships among five members of the human gamma-crystallin gene family". Molecular and Cellular Biology. 5 (6): 1408–14. doi:10.1128/mcb.5.6.1408. PMC 366871. PMID 4033658.
- den Dunnen JT, Moormann RJ, Cremers FP, Schoenmakers JG (1986). "Two human gamma-crystallin genes are linked and riddled with Alu-repeats". Gene. 38 (1–3): 197–204. doi:10.1016/0378-1119(85)90218-5. PMID 4065573.
- Andley UP, Mathur S, Griest TA, Petrash JM (December 1996). "Cloning, expression, and chaperone-like activity of human alphaA-crystallin". The Journal of Biological Chemistry. 271 (50): 31973–80. doi:10.1074/jbc.271.50.31973. PMID 8943244.
- Lampi KJ, Ma Z, Shih M, Shearer TR, Smith JB, Smith DL, David LL (January 1997). "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens". The Journal of Biological Chemistry. 272 (4): 2268–75. doi:10.1074/jbc.272.4.2268. PMID 8999933.
- Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL (November 1999). "The gamma-crystallins and human cataracts: a puzzle made clearer". American Journal of Human Genetics. 65 (5): 1261–7. doi:10.1086/302619. PMC 1288278. PMID 10521291.
- Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF (May 2000). "A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract". Human Genetics. 106 (5): 531–7. doi:10.1007/s004390050021. hdl:2027.42/42265. PMID 10914683.
- Fu L, Liang JJ (February 2002). "Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay". The Journal of Biological Chemistry. 277 (6): 4255–60. doi:10.1074/jbc.M110027200. PMID 11700327.
- Fu L, Liang JJ (February 2002). "Conformational change and destabilization of cataract gammaC-crystallin T5P mutant". FEBS Letters. 513 (2–3): 213–6. doi:10.1016/S0014-5793(02)02313-X. PMID 11904153.
- Santhiya ST, Shyam Manohar M, Rawlley D, Vijayalakshmi P, Namperumalsamy P, Gopinath PM, Löster J, Graw J (May 2002). "Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts". Journal of Medical Genetics. 39 (5): 352–8. doi:10.1136/jmg.39.5.352. PMC 1735119. PMID 12011157.
- MacCoss MJ, McDonald WH, Saraf A, Sadygov R, Clark JM, Tasto JJ, Gould KL, Wolters D, Washburn M, Weiss A, Clark JI, Yates JR (June 2002). "Shotgun identification of protein modifications from protein complexes and lens tissue". Proceedings of the National Academy of Sciences of the United States of America. 99 (12): 7900–5. Bibcode:2002PNAS...99.7900M. doi:10.1073/pnas.122231399. PMC 122992. PMID 12060738.
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