Property Summary

NCBI Gene PubMed Count 96
Grant Count 84
R01 Count 34
Funding $17,872,451.41
PubMed Score 411.62
PubTator Score 312.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
adrenocortical carcinoma -3.027 0.027

Synonym

Accession P15538 Q14095 Q4VAQ8 Q4VAQ9 Q9UML2
Symbols FHI
CPN1
CYP11B
P450C11

Gene

Gene RIF (72)

PMID Text
26476331 Congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
26066897 Chimeric CYP11B2/CYP11B1 causing 11beta-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia
25913739 Mutations in the CYP11B1 gene are the cause of 11beta-hydroxylase deficiency.
25911436 Seven novel CYP11B1 mutations identified in Chinese patients with 11 beta-hydroxylase deficiency.
24837548 Heterogenous immunolocalization of CYP11B2 and diffuse immunoreactivity of CYP11B1 were detected.
24536089 Data from recombinant proteins suggest three additional mutations in CYP11B1 (p.His125Thrfs*8; p.Leu463_Leu464dup; p.Ser150Leu) can account for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (classical/non-classical phenotype).
24022297 study of the functional consequences of 3 novel and 1 previously described CYP11B1 gene mutations (p.(Arg143Trp), p.(Ala306Val), p.(Glu310Lys) and p.(Arg332Gln)) detected in patients suffering from classical and non-classical 11beta-OHD
23825130 Expression of P45011beta and StAR (steroidogenic acute regulatory protein) is down-regulated in adrenocortical cells and neurons under oxidative stress by ALADIN (triple A syndrome protein, human) knockdown.
23345044 Analysis of the CYP11B1 gene revealed two novel mutations, a small insertion in exon 7 (InsAG393) and a small deletion in exon 2 (DelG766), and three previously known missense mutations (T318M, Q356X, and R427H).
23150505 Functional analysis of heterozygous human adrenal tissue demonstrated decreased CYP11B2 expression and increased CYP11B1 expression for those alleles associating with reduced risk of hypertension.
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AA Sequence

MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQ      1 - 70
TFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFN     71 - 140
RLRLNPEVLSPNAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLG    141 - 210
LVGHSPSSASLNFLHALEVMFKSTVQLMFMPRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAF    211 - 280
SRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTVFPLLMTLFELARNPNVQQALRQESLAAAAS    281 - 350
ISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAGTLVRVFLYSLGRNPALFPRP    351 - 420
ERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQEDIKMVYSFILR    421 - 490
PSMFPLLTFRAIN                                                             491 - 503
//

Text Mined References (102)

PMID Year Title
26476331 2016 Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
26066897 2015 Chimeric CYP11B2/CYP11B1 causing 11?-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.
26053152 2015 Characterization of the molecular genetic pathology in patients with 11?-hydroxylase deficiency.
25913739 2015 A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11?-hydroxylase deficiency.
25911436 2015 Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11?-hydroxylase deficiency.
24987415 2014 Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 ? -Hydroxylase Deficiency.
24837548 2014 Adrenal CYP11B1/2 expression in primary aldosteronism: immunohistochemical analysis using novel monoclonal antibodies.
24536089 2014 Characterisation of three novel CYP11B1 mutations in classic and non-classic 11?-hydroxylase deficiency.
24022297 2014 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
23940125 2013 A diagnosis not to be missed: nonclassic steroid 11?-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
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