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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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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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 |
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| Gene |
CYP21A2 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 2 |
613815.0006; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| Identified Mutation |
IVS2AS,A/C>G,-13 |
| Remarks |
Only affected amongst triplets; a paternal cousin is also affected; at birth, severely virilized & elevated 17-hydroxy-progesterone; 46,XX in PBL; pt doing well on hydrocortisone; donor subject is homozygous for 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] |
| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018 |
| PubMed ID: 30326846 |
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| 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: 11644 |
| 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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