Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90-95% of CAH cases. In the present work, we analyzed the functional consequence of four novel previously reported point CYP21A2 mutations -p.R132C, p.R149C, p.M283V...

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Autores principales: Taboas, M., Gómez Acuña, L., Scaia, M.F., Bruque, C.D., Buzzalino, N., Stivel, M., Ceballos, N.R., Dain, L.
Formato: JOUR
Materias:
hydroxyprogesterone
progesterone
steroid 21 monooxygenase
CYP21A2 protein, human
messenger RNA
primer DNA
allele
amino acid substitution
Argentinean
article
bioinformatics
congenital adrenal hyperplasia
CYP21A2 gene
enzyme activity
enzyme assay
enzyme deficiency
ethnicity
exon
gene function
genetic variability
heterozygosity
human
point mutation
RNA splicing
stop codon
wild type
biology
chemistry
enzyme specificity
genetics
metabolism
pathology
real time polymerase chain reaction
reverse transcription polymerase chain reaction
Western blotting
17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Blotting, Western
Computational Biology
DNA Primers
Humans
Point Mutation
Progesterone
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger
Steroid 21-Hydroxylase
Substrate Specificity
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_19326203_v9_n3_p_Taboas
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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