CRYBA4
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| Crystallin, beta A4
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| Identifiers | |||||||||||
| Symbol(s) | CRYBA4; | ||||||||||
| External IDs | OMIM: 123631 MGI: 102716 Homologene: 1422 | ||||||||||
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| RNA expression pattern | |||||||||||
| Orthologs | |||||||||||
| Human | Mouse | ||||||||||
| Entrez | 1413 | 12959 | |||||||||
| Ensembl | ENSG00000196431 | ENSMUSG00000066975 | |||||||||
| Uniprot | P53673 | Q3TSJ3 | |||||||||
| Refseq | NM_001886 (mRNA) NP_001877 (protein) | NM_021351 (mRNA) NP_067326 (protein) | |||||||||
| Location | Chr 22: 25.35 - 25.36 Mb | Chr 5: 112.49 - 112.49 Mb | |||||||||
| Pubmed search | [1] | [2] | |||||||||
Crystallin, beta A4, also known as CRYBA4, is a human gene.[1]
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. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3.[1]
References
Further reading
- Billingsley G, Santhiya ST, Paterson AD, et al. (2006). "CRYBA4, a novel human cataract gene, is also involved in microphthalmia.". Am. J. Hum. Genet. 79 (4): 702-9. doi:10.1086/507712. PMID 16960806.
- 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.
- Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
- 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.
- Mackay DS, Boskovska OB, Knopf HL, et al. (2003). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.". Am. J. Hum. Genet. 71 (5): 1216-21. PMID 12360425.
- MacCoss MJ, McDonald WH, Saraf A, et al. (2002). "Shotgun identification of protein modifications from protein complexes and lens tissue.". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 7900-5. doi:10.1073/pnas.122231399. PMID 12060738.
- Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208.
- Lampi KJ, Ma Z, Shih M, et al. (1997). "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.". J. Biol. Chem. 272 (4): 2268-75. PMID 8999933.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548.
- David LL, Shearer TR, Shih M (1993). "Sequence analysis of lens beta-crystallins suggests involvement of calpain in cataract formation.". J. Biol. Chem. 268 (3): 1937-40. PMID 8420967.
- Bijlsma EK, Delattre O, Juyn JA, et al. (1994). "Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2.". Genes Chromosomes Cancer 8 (2): 112-8. PMID 7504514.
- van Rens GL, Geurts van Kessel AH, Bloemendal H (1992). "Localization of the beta A4-crystallin gene (CRYBA4) on human chromosome 22 in the region q11.2-->q13.1.". Cytogenet. Cell Genet. 61 (3): 180-3. PMID 1424806.
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
