GM12217
LCL from B-Lymphocyte
Description:
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| steroid 21-monooxygenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.14.99.10 |
| |
| 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. |
| |
| Gene |
CYP21A2 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 2 |
613815.0001; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE |
| Identified Mutation |
ILE172ASN |
| Remarks |
Simple virilizing 21-hydroxylase deficiency; elevated 17-hydroxyprogesterone level; pubic hair since age 12 months; accelerated growth; bone age is twice chronological age; acne; donor subject is a compound heterozygote: one allele has a deletion of 30 Kb in exon 3-4 of the CYP21A2 gene leaving behind the C4A gene and a single CYP21P-like gene - the deletion prevents the synthesis of the protein and destroys all enzymatic activity; the second allele has codon 172 of the mutant gene changed from ATC, encoding isoleucine, to AAC, encoding asparagine [Ile172Asn (I172N)] |
| 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 |
| |
| 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: 11688 |
| Gene Cards |
CYP21 |
|
CYP21A2 |
| Gene Ontology |
GO:0004497 monooxygenase activity |
|
GO:0004509 steroid 21-monooxygenase activity |
|
GO:0005496 steroid binding |
|
GO:0005783 endoplasmic reticulum |
|
GO:0005792 microsome |
|
GO:0006118 electron transport |
|
GO:0006700 C21-steroid hormone biosynthesis |
|
GO:0016020 membrane |
|
GO:0019825 oxygen binding |
| NCBI Gene |
Gene ID:1589 |
| NCBI GTR |
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
|
613815 CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2 |
| OMIM |
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
|
613815 CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2 |
| Omim Description |
21-@HYDROXYLASE B, INCLUDED; CYP21B, INCLUDED |
| |
21-@HYDROXYLASE DEFICIENCY |
| |
ADRENAL HYPERPLASIA III |
| |
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| |
CA21H |
| |
CONGENITAL ADRENAL HYPERPLASIA 1; CAH1CYTOCHROME P450, SUBFAMILY XXI, INCLUDED; CYP21, INCLUDED |
| |
CYP21 DEFICIENCY |
| |
CYP21A, INCLUDED |
| |
STEROID CYTOCHROME P450 21-HYDROXYLASE PSEUDOGENE, INCLUDED; CYP21P,INCLUDED |
| |
STEROID CYTOCHROME P450 21-HYDROXYLASE, INCLUDED; P450C21, INCLUDED |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|