Description:
ADRENAL HYPOPLASIA, CONGENITAL; AHC
NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
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| Gene |
NR0B1 |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
884T>C; L295P |
| Remarks |
Clinically affected with juvenile type; sequencing revealed T>C substitution at nucleotide 884 of the NR0B1 gene, resulting in L295P (missense mutation); see subject 2514 in publication by Zhang, et al (PMID 11748852); |
| Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK, Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita Human mutation18:547 2001 |
| PubMed ID: 11748852 |
| Gene Cards |
DAX1 |
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NR0B1 |
| Gene Ontology |
GO:0003700 transcription factor activity |
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GO:0003707 steroid hormone receptor activity |
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GO:0005634 nucleus |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006694 steroid biosynthesis |
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GO:0007530 sex determination |
| NCBI Gene |
Gene ID:190 |
| NCBI GTR |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
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300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1 |
| OMIM |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
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300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1 |
| Omim Description |
ADDISON DISEASE, X-LINKED; AHX |
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ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM |
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ADRENAL HYPOPLASIA, CONGENITAL; AHC |
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AHC WITH HHGCYTOMEGALIC ADRENOCORTICAL HYPOPLASIA, INCLUDED |
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AHC WITH ISOLATED GONADOTROPIN DEFICIENCY, INCLUDED |
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DOSAGE SENSITIVE SEX REVERSAL/ADRENAL HYPOPLASIA CONGENITA, X-LINKED1, INCLUDED |
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DSS-AHC CRITICAL REGION ON THE X CHROMOSOME, GENE 1, INCLUDED; DAX1,INCLUDED |
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