Description:
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
| 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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Family Member
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3
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Relation to Proband
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father
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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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| Gene |
CYP21A2 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 1 |
613815.0011; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE |
| Identified Mutation |
30-KB DEL; In 13 patients with congenital adrenal hyperplasia, White et al. (Proc Nat Acad Sci 85:4436-4440, 1988) identified a deletion of approximately 30 kb, leaving behind the C4A gene (encoding the fourth component of complement; 120820) and a single CYP21P-like gene. The deletion prevents the synthesis of the protein and destroys all enzymatic activity. This mutation is very common and is found in 29% of all the salt-wasting cases. |
| Remarks |
Obligate heterozygote; father of affected son, GM14734; donor subject has one allele with a 30 kb deletion of the CYP21A2 gene |
| Greene CN, Cordovado SK, Turner DP, Keong LM, Shulman D, Mueller PW, Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines Molecular genetics and metabolism reports1:312-323 2014 |
| PubMed ID: 27896104 |
| dbSNP |
dbSNP ID: 12181 |
| Gene Cards |
CYP21 |
| Gene Ontology |
GO:0004497 monooxygenase activity |
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GO:0004509 steroid 21-monooxygenase activity |
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GO:0005496 steroid binding |
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GO:0005783 endoplasmic reticulum |
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GO:0005792 microsome |
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GO:0006118 electron transport |
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GO:0006700 C21-steroid hormone biosynthesis |
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GO:0016020 membrane |
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GO:0019825 oxygen binding |
| NCBI Gene |
Gene ID:1589 |
| NCBI GTR |
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| OMIM |
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| Omim Description |
21-@HYDROXYLASE B, INCLUDED; CYP21B, INCLUDED |
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21-@HYDROXYLASE DEFICIENCY |
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ADRENAL HYPERPLASIA III |
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ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
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CA21H |
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CONGENITAL ADRENAL HYPERPLASIA 1; CAH1CYTOCHROME P450, SUBFAMILY XXI, INCLUDED; CYP21, INCLUDED |
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CYP21 DEFICIENCY |
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CYP21A, INCLUDED |
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STEROID CYTOCHROME P450 21-HYDROXYLASE PSEUDOGENE, INCLUDED; CYP21P,INCLUDED |
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STEROID CYTOCHROME P450 21-HYDROXYLASE, INCLUDED; P450C21, INCLUDED |
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