Description:
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| steroid 21-monooxygenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.14.99.10 |
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| Gene |
CYP21A2 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 1 |
613815.0006; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| Identified Mutation |
IVS2AS,A/C>G,-13 |
| Remarks |
See GM02241 Fibroblast; 21-hydroxylase deficiency; salt-losing type; responsive to hydrocortisone treatment; donor subject has at least one allele with an A>G or C>G change at position -2 in the acceptor splice site of intron 2 resulting in an aberrant splice site being activated 7 bases upstream of the mutation in the CYP21A2 gene [IVS2-13A/C>G] |
| dbSNP |
dbSNP ID: 10495 |
| Gene Cards |
CYP21 |
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CYP21A2 |
| 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 |
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613815 CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2 |
| OMIM |
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
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613815 CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2 |
| 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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