Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
2 |
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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 |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Identified Mutation |
GLN452TER |
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| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 2 |
126340.0015; XERODERMA PIGMENTOSUM, TYPE D |
| Identified Mutation |
ARG683TRP |
| Remarks |
XP29BE; freckling; numerous skin cancers including more than 50 basal cell carcinomas and multiple malignant melanomas; mental retardation; deafness; see GM11612 Lymphoid |
| Low GKM, Ting APL, Fok EDZ, Gopalakrishnan K, Zeegers D, Khaw AK, Jayapal M, Martinez-Lopez W, Hande MP, Role of Xeroderma pigmentosum D (XPD) protein in genome maintenance in human cells under oxidative stress Mutation research Genetic toxicology and environmental mutagenesis876-877:503444 2021 |
| PubMed ID: 35483790 |
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| Ueda T, Compe E, Catez P, Kraemer KH, Egly JM, Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients The Journal of experimental medicine206:3031-46 2009 |
| PubMed ID: 19934020 |
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| Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL, Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med318:1633-7 1988 |
| PubMed ID: 3287161 |
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| Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL, Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med318:1633-7 1988 |
| PubMed ID: 23232694 |
| dbSNP |
dbSNP ID: 21122 |
| Gene Cards |
ERCC2 |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0003677 DNA binding |
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GO:0004003 ATP-dependent DNA helicase activity |
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GO:0005515 protein binding |
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GO:0005524 ATP binding |
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GO:0005634 nucleus |
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GO:0005675 transcription factor TFIIH complex |
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GO:0006283 transcription-coupled nucleotide-excision repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006366 transcription from Pol II promoter |
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GO:0006917 induction of apoptosis |
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GO:0007605 perception of sound |
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GO:0016787 hydrolase activity |
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GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
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GO:0043139 5' to 3' DNA helicase activity |
| NCBI Gene |
Gene ID:2068 |
| NCBI GTR |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Omim Description |
TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED |
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XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
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XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
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XP, GROUP D; XPDC |
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XP, GROUP H, FORMERLY; XPH, FORMERLY |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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