Gene Review:
COL4A5 - collagen, type IV, alpha 5
Homo sapiens
Synonyms:
ASLN, ATS, CA54, Collagen alpha-5(IV) chain
- Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Zhou, J., Mochizuki, T., Smeets, H., Antignac, C., Laurila, P., de Paepe, A., Tryggvason, K., Reeders, S.T. Science (1993)
- Loss of expression of type IV collagen alpha5 and alpha6 chains in colorectal cancer associated with the hypermethylation of their promoter region. Ikeda, K., Iyama, K., Ishikawa, N., Egami, H., Nakao, M., Sado, Y., Ninomiya, Y., Baba, H. Am. J. Pathol. (2006)
- Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Kashtan, C.E. Medicine (Baltimore) (1999)
- COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Buzza, M., Wang, Y.Y., Dagher, H., Babon, J.J., Cotton, R.G., Powell, H., Dowling, J., Savige, J. Kidney Int. (2001)
- Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Barker, D.F., Hostikka, S.L., Zhou, J., Chow, L.T., Oliphant, A.R., Gerken, S.C., Gregory, M.C., Skolnick, M.H., Atkin, C.L., Tryggvason, K. Science (1990)
- FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Piccini, M., Vitelli, F., Bruttini, M., Pober, B.R., Jonsson, J.J., Villanova, M., Zollo, M., Borsani, G., Ballabio, A., Renieri, A. Genomics (1998)
- Coronary atherosclerosis and alcohol consumption: angiographic and mortality data. Femia, R., Natali, A., L'Abbate, A., Ferrannini, E. Arterioscler. Thromb. Vasc. Biol. (2006)
- FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Meloni, I., Muscettola, M., Raynaud, M., Longo, I., Bruttini, M., Moizard, M.P., Gomot, M., Chelly, J., des Portes, V., Fryns, J.P., Ropers, H.H., Magi, B., Bellan, C., Volpi, N., Yntema, H.G., Lewis, S.E., Schaffer, J.E., Renieri, A. Nat. Genet. (2002)
- Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. Guo, C., Van Damme, B., Vanrenterghem, Y., Devriendt, K., Cassiman, J.J., Marynen, P. J. Clin. Invest. (1995)
- De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. Renieri, A., Seri, M., Myers, J.C., Pihlajaniemi, T., Massella, L., Rizzoni, G., De Marchi, M. Hum. Mol. Genet. (1992)
- A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. Peissel, B., Rossetti, S., Renieri, A., Galli, L., De Marchi, M., Battini, G., Meroni, M., Sessa, A., Schiavano, S., Pignatti, P.F. Hum. Mutat. (1994)
- Tumor-associated mucin-type glycoprotein (CA54/61) defined by two monoclonal antibodies (MA54 and MA61) in ovarian cancers. Nozawa, S., Yajima, M., Kojima, K., Iizuka, R., Mochizuki, H., Sugawara, T., Iwamori, M., Nagai, Y. Cancer Res. (1989)
- Microbial conversion products of leptomycin B. Kuhnt, M., Bitsch, F., Ponelle, M., Sanglier, J.J., Wang, Y., Wolff, B. Appl. Environ. Microbiol. (1998)
- Sensitivity of FEV1 and indices of flow volume curve in the methacholine test. Mannino, F., Mariotta, S., Anticoli, S., Lambert-Gardini, S., Terzano, C. Allergologia et immunopathologia. (1996)
- Structure of the human type IV collagen COL4A5 gene. Zhou, J., Leinonen, A., Tryggvason, K. J. Biol. Chem. (1994)
- A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome. Kalluri, R., van den Heuvel, L.P., Smeets, H.J., Schroder, C.H., Lemmink, H.H., Boutaud, A., Neilson, E.G., Hudson, B.G. Kidney Int. (1995)
- Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. van der Loop, F.T., Monnens, L.A., Schröder, C.H., Lemmink, H.H., Breuning, M.H., Timmer, E.D., Smeets, H.J. Kidney Int. (1999)
- Tissue- and developmental stage-specific activation of alpha 5 and alpha 6(IV) collagen expression in the upper gastrointestinal tract of transgenic mice. Herzog, C., Zhuang, L., Gorgan, L., Segal, Y., Zhou, J. Biochem. Biophys. Res. Commun. (2003)
- Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Cosgrove, D., Samuelson, G., Meehan, D.T., Miller, C., McGee, J., Walsh, E.J., Siegel, M. Hear. Res. (1998)
- Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain. Guo, C., Van Damme, B., Van Damme-Lombaerts, R., Van den Berghe, H., Cassiman, J.J., Marynen, P. Kidney Int. (1993)
- Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. Wang, F., Wang, Y., Ding, J., Yang, J. Kidney Int. (2005)
- X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Renieri, A., Bruttini, M., Galli, L., Zanelli, P., Neri, T., Rossetti, S., Turco, A., Heiskari, N., Zhou, J., Gusmano, R., Massella, L., Banfi, G., Scolari, F., Sessa, A., Rizzoni, G., Tryggvason, K., Pignatti, P.F., Savi, M., Ballabio, A., De Marchi, M. Am. J. Hum. Genet. (1996)
- Human islet xenograft survival in diabetic rats. A functional and immunohistochemical study. Tze, W.J., Tai, J., Cheung, S. Transplantation (1990)
- Characterization of human cells transformed in vitro by N-methyl-N'-nitro-N-nitrosoguanidine. Rhim, J.S., Putman, D.L., Arnstein, P., Huebner, R.J., McAllister, R.M. Int. J. Cancer (1977)
- Mutations in collagen genes: causes of rare and some common diseases in humans. Kuivaniemi, H., Tromp, G., Prockop, D.J. FASEB J. (1991)
- High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. Martin, P., Heiskari, N., Zhou, J., Leinonen, A., Tumelius, T., Hertz, J.M., Barker, D., Gregory, M., Atkin, C., Styrkarsdottir, U., Neumann, H., Springate, J., Shows, T., Pettersson, E., Tryggvason, K. J. Am. Soc. Nephrol. (1998)
- Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Ciccarese, M., Casu, D., Ki Wong, F., Faedda, R., Arvidsson, S., Tonolo, G., Luthman, H., Satta, A. Nephrol. Dial. Transplant. (2001)
- Thin basement membrane nephropathy. Savige, J., Rana, K., Tonna, S., Buzza, M., Dagher, H., Wang, Y.Y. Kidney Int. (2003)
- Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies. Ninomiya, Y., Kagawa, M., Iyama, K., Naito, I., Kishiro, Y., Seyer, J.M., Sugimoto, M., Oohashi, T., Sado, Y. J. Cell Biol. (1995)
- Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Knebelmann, B., Deschenes, G., Gros, F., Hors, M.C., Grünfeld, J.P., Zhou, J., Tryggvason, K., Gubler, M.C., Antignac, C. Am. J. Hum. Genet. (1992)