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FLASH GENE

Symbol

CYP11B1

contributors: mct/npt - updated : 02-06-2010

HGNC name	cytochrome P450, family 11, subfamily B, polypeptide 1
HGNC id	2591

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000497 9 - 3551 NP_000488 57 503 - Barr (2007) NM_001026213 8 - 3353 NP_001021384 49 437 - Barr (2007)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland cortex       Reproductive female system breast mammary gland

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N terminal 24 AA mitochondrial signal sequence

conjugated

HemoP

mono polymer

monomer

isoforms

Precursor

HOMOLOGY

interspecies

homolog to bovine p-450 11 beta

intraspecies

homolog to CYP11B2

Homologene

FAMILY	cytochrome P450 subfamily XIB
	multigenic cytochrome P450 superfamily of mixed-function monooxygenases

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION

involved in glucocorticoid biosynthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

hormone

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADPH, heme

protein

flavoprotein P450 oxidoreductase (POR)

cell & other

REGULATION

Other

regulated by cyclic AMP (cAMP)-dependent signaling

ASSOCIATED DISORDERS

corresponding disease(s)

CYP11B1 , GSH

Susceptibility

to aldosterone-producing adenoma (APA)

Variant & Polymorphism other	-344 C/T and intron 2 conversion associated with markers of impaired 11beta-hydroxylase activity
	rs6410 most frequent in patients with aldosterone-producing adenoma (APA) (Zhang 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS