Cytochrome P450, Subfamily XIB, Polypeptide 1

Alternative Names

CYP11B1
Steroid 11-Beta-Hydroxylase
P450C11

Length

7,493 bases

No. of Exons

No. of isoforms

Protein Name

Cytochrome P450 11B1, mitochondrial

Molecular Mass

57573 da

Amino Acid Count

503

Genomic Location

chr8:142,872,354-142,879,846

Gene Map Locus

8q24.3

Description

The CYP11B1 gene encodes a hydroxylase enzyme localized to the mitochondrial inner membrane. This enzyme is involved in the conversion of progesterone to cortisol in the adrenal cortex, specifically in the catalysis of 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000497.3:c.1210dup	Lebanon	NC_000008.11:g.142875145dup		Pathogenic	Adrenal Hyperplasia, Congenital, due to 11-Beta-Hydroxylase Deficiency	NG_007954.1:g.9676dup; NM_000497.3:c.1210dup; NP_000488.3:p.Arg404ProfsTer18
NM_000497.3:c.1343G>A	Morocco	chr8:142875012	Pathogenic	Pathogenic	Adrenal Hyperplasia, Congenital, due to 11-Beta-Hydroxylase Deficiency	NG_007954.1:g.9809G>A; NM_000497.3:c.1343G>A; NP_000488.3:p.Arg448His	28934586	1171

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Edit History

Sayeeda Hana: 20.06.2019

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