Description:
ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 1 |
skipping of exon 26; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
c.3576G>A |
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| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 2 |
skipping of exon 26; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
c.3576G>A |
| Remarks |
Cerebellar ataxia; apraxia, no sinopulmonary infections; choreoathetosis; new NGS data revealed a homozygous mutation in the ATM gene (NM_000051.3, GRCh37, hg 19), c.3576G>A, results in the skipping/silencing of exon 26; a heterozygous missense mutation in RAD50 (NM_005732.3) is also present, c.2176C>T (p.Arg726Cys), rs753002904. |
| Manola KN, Terzoudi GI, Dardoufas CE, Malik SI, Pantelias GE, Radioprotective effect of amifostine on cells from cancer prone patients and healthy individuals studied by the G2 and PCC assays International journal of radiation biology79:831-8 2003 |
| PubMed ID: 14630542 |
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| Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A, Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet62:551-61 1998 |
| PubMed ID: 9497252 |
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| Maserati E, Ottolini A, Veggiotti P, Lanzi G, Pasquali F, Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. Clin Genet34:283-7 1988 |
| PubMed ID: 3228996 |
| dbSNP |
dbSNP ID: 18302 |
| Gene Cards |
ATM |
| Gene Ontology |
GO:0003677 DNA binding |
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GO:0003700 transcription factor activity |
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GO:0004674 protein serine/threonine kinase activity |
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GO:0005622 intracellular |
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GO:0005634 nucleus |
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GO:0006281 DNA repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0007131 meiotic recombination |
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GO:0007165 signal transduction |
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GO:0016740 transferase activity |
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GO:0016773 phosphotransferase activity, alcohol group as acceptor |
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GO:0045786 negative regulation of cell cycle |
| NCBI Gene |
Gene ID:472 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
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607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
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607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
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AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
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AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
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AT1 |
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ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
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