A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency (Q24299909)

steroid 17-alpha-monooxygenase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Jan Idkowiak

1

0 references

Nils Krone

Nils Krone

7

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Wiebke Arlt

Wiebke Arlt

8

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Cedric H L Shackleton

5

Cedric H L Shackleton

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Vivek Dhir

3

Vivek Dhir

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author name string

Tabitha Randell

2

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Pushpa Patel

4

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Norman F Taylor

The Journal of Clinical Endocrinology and Metabolism

6

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language of work or name

English

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publication date

March 2012

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published in

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volume

97

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page(s)

E465-75

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issue

3

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cites work

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

1 reference

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The genetic and functional basis of isolated 17,20-lyase deficiency

19 March 2017

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Design challenges for hemoproteins: the solution structure of apocytochrome b5

19 March 2017

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Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

19 March 2017

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Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

19 March 2017

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The structure, function and evolution of cytochromes

19 March 2017

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Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.

19 March 2017

1 reference

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Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency

27 September 2017

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Human cytochrome b5 requires residues E48 and E49 to stimulate the 17,20-lyase activity of cytochrome P450c17.

27 September 2017

1 reference

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Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty

27 September 2017

1 reference

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A relationship between heme binding and protein stability in cytochrome b5.

27 September 2017

1 reference

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The distinct heme coordination environments and heme-binding stabilities of His39Ser and His39Cys mutants of cytochrome b5.

27 September 2017

1 reference

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Distinct roles of endoplasmic reticulum cytochrome b5 and fused cytochrome b5-like domain for rat Delta6-desaturase activity.

27 September 2017

1 reference

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CYP17 Mutation E305G Causes Isolated 17,20-Lyase Deficiency by Selectively Altering Substrate Binding

27 September 2017

1 reference

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Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

27 September 2017

1 reference

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Congenital methemoglobinemia with a deficiency of cytochrome b5.

27 September 2017

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17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition

27 September 2017

1 reference

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Male Pseudohermaphroditism Consistent with 17,20-Desmolase Deficiency

27 September 2017

1 reference

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Testicular function in post pubertal male pseudohermaphroditism

27 September 2017

1 reference

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Inactivating PAPSS2 mutations in a patient with premature pubarche

27 September 2017

1 reference

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Male pseudohermaphroditism due to 17,20-desmolase deficiency

30 May 2018

1 reference

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Lack of electron transfer from cytochrome b5 in stimulation of catalytic activities of cytochrome P450 3A4. Characterization of a reconstituted cytochrome P450 3A4/NADPH-cytochrome P450 reductase system and studies with apo-cytochrome b5.

30 May 2018

1 reference

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Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3388247

Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3388247

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3388247

Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3388247

Cytochrome b5, not superoxide anion radical, is a major reductant of indoleamine 2,3-dioxygenase in human cells

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3388247

Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3388247

Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3388247

P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3388247

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

29 November 2018

1 reference

12 December 2020

Familial Male Pseudohermaphroditism due to 17–20- Desmolase Deficiency. I.In VivoEndocrine Studies*

1 reference

12 December 2020

Testicular function in prepubertal male pseudohermaphroditism

1 reference

12 December 2020

Two Types of Male Pseudohermaphroditism due to 17,20-Desmolase Deficiency*

1 reference

12 December 2020

Cytochrome b5 stimulates purified testicular microsomal cytochrome P-450 (C21 side-chain cleavage)

1 reference

12 December 2020

Hypergonadotrophic hypogonadism in an XX female subject due to 17,20 steroid desmolase deficiency

1 reference

12 December 2020

17,20-desmolase deficiency in a female newborn, paradoxically virilized in utero

1 reference

12 December 2020

A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism

1 reference

12 December 2020

A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1)

1 reference

12 December 2020