CYP11A1 - cytochrome P450 family 11 subfamily A member 1 Gene

Also Known as CYP11A; CYPXIA1; P450SCC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1583

About CYP11A1

Cytogenetic location: 15q24.1 Genomic coordinates (GRCh38): 15:74,337,762-74,367,646 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 194 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 261.9), placenta (RPKM 29.0) and 1 other tissue.

Summary

This gene encodes a member of the Cytochrome P450 superfamily of Enzymes. The Cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of Cholesterol, Steroids and Other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of Cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid Hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]

CYP11A1 Products (2)

mRNA Protein Name
NM_000781.3 NP_000772.2 cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor
NM_001099773.2 NP_001093243.1 cholesterol side-chain cleavage enzyme, mitochondrial isoform b
Molecular Function GO Annotation Evidence References Source
enables cholesterol monooxygenase (side-chain-cleaving) activity IDA
IDA: Inferred from direct assay
11502818 GOA
enables heme binding IDA
IDA: Inferred from direct assay
21636783 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25464930 GOA
Biological Process GO Annotation Evidence References Source
involved in C21-steroid hormone biosynthetic process IDA
IDA: Inferred from direct assay
11502818 GOA
involved in cholesterol metabolic process IDA
IDA: Inferred from direct assay
21636783 GOA
involved in cholesterol metabolic process IMP
IMP: Inferred from mutant phenotype
18182448 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP11A1 Protein Structure

p450

p450: Cytochrome P450 (52 - 511)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 521 a.a.
Protein Preferred Names Protein Names

cholesterol side-chain cleavage enzyme, mitochondrial

  • cholesterol 20-22 desmolase

CYP11A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CYP11A1 P05108 NLGN3 Homo sapiens Q9NZ94-2 25464930
Cross: Cross-species interaction Intra: Intraspecies interaction

CYP11A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81223 CYP11A1 Antibody WB, IHC-P, IHC-F, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
  • P450scc Deficiency

  • Congenital Adrenal Insufficiency

  • Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete

  • 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency

  • Xy Sex Reversal-Adrenal Failure

  • Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal

  • AICSR

  • Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete

  • Adrenal Insufficiency, Congenital

  • Congenital Adrenal Hyperplasia

  • Adrenogenital Syndrome

Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11a1 Deficiency
Polycystic Ovary Syndrome
  • Polycystic Ovarian Syndrome

  • Pcos

  • Polycystic Ovarian Disease

  • Polycystic Ovaries

  • Stein-Leventhal Syndrome

  • Multicystic Ovaries

  • Polycystic Ovary

  • Sclerocystic Ovaries

  • Sclerocystic Ovary Syndrome

  • Stein-Leventhal Synd.

  • Cystic Disease Of Ovaries

  • Cystic Disease Of Ovary

  • Pco

  • Pcod

  • Sclerocystic Ovarian Degeneration

  • Polycystic Ovary Syndrome, Susceptibility To

  • Pcos - [Polycystic Ovary Syndrome]

  • Polycystic Ovary Nos

  • Pco - [Polycystic Ovary]

Lipoid Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hyperplasia

  • Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

  • Congenital Lipoid Adrenal Hyperplasia

  • Lipoid Cah

  • Lipoid Adrenal Hyperplasia

  • Adrenal Hyperplasia 1

  • Cah

  • Clah

  • LCAH

  • Adrenal Hyperplasia I

  • Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

  • Congenital Adrenal Hyperplasia Lipoid

  • Adrenal Hyperplasia, Congenital

  • Congenital Adrenal Hyperplasia, Lipoid

  • AH1

  • Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

  • Adrenal Hyperplasia Congenital

  • Hyperplasia, Adrenal, Lipoid, Congenital

  • Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

  • Congenital Adrenal Cortical Hyperplasia

  • Congenital Adrenal Gland Hyperplasia

  • Congenital Adrenogenital Syndrome

  • Congenital Hyperadrenocorticism

  • Congenital Adrenogenitalism

  • Congenital Female Adrenal Pseudohermaphroditism

46,Xy Sex Reversal
  • Swyer Syndrome

  • Pure Gonadal Dysgenesis 46,Xy

  • Gonadal Dysgenesis, Xy Female Type

  • Gonadal Dysgenesis, 46,Xy

  • 46,Xy Cgd

  • 46,Xy Complete Gonadal Dysgenesis

  • 46,Xy Pure Gonadal Dysgenesis

  • 46 Xy Gonadal Dysgenesis

  • 46, Xy Cgd

  • 46, Xy Complete Gonadal Dysgenesis

  • 46, Xy Pure Gonadal Dysgenesis

  • Xy Pure Gonadal Dysgenesis

  • Female With 46,Xy Karyotype

  • Xy Females

Acute Adrenal Insufficiency
  • Addisonian Crisis

  • Adrenal Crisis

  • Acute Adrenocortical Insufficiency

  • Adrenocortical Crisis

  • Acute Adrenal Failure

  • Adrenal Collapse

  • Adrenal Shock

  • Severe Adrenal Insufficiency

  • Addison Crisis

Hyperandrogenism
  • Hyperandrogenization Syndrome

Autoimmune Polyendocrine Syndrome
  • Autoimmune Polyendocrinopathy

  • Autoimmune Polyglandular Failure

  • Autoimmune Polyglandular Syndrome

  • Polyendocrinopathies, Autoimmune

  • Lloyd'S Syndrome

  • Aps

  • Polyendocrinopathies Autoimmune

  • Polyendocrine Autoimmunity Syndrome

  • Lloyd Syndrome

  • Polyglandular Autoimmune Deficiency

  • Progressive Pluriglandular Insufficiency

  • Pluriglandular Autoimmune Atrophy

  • Pluriglandular Autoimmune Syndrome

  • Thyroid-Adrenocortical Insufficiency Syndrome

Smith-Lemli-Opitz Syndrome
  • SLOS

  • Rsh Syndrome

  • 7-Dehydrocholesterol Reductase Deficiency

  • Slo Syndrome

  • Rutledge Lethal Multiple Congenital Anomaly Syndrome

  • Lethal Acrodysgenital Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

  • Smith-Opitz-Inborn Syndrome

  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

  • Smith Lemli Opitz Syndrome

  • Smith-Lemli-Opitz Syndrome, Type Ii

Hypoadrenocorticism, Familial
  • Addison Disease

  • Primary Adrenocortical Insufficiency

  • Addison'S Disease

  • Adrenal Gland Hypofunction

  • Adrenal Hypoplasia

  • Adrenal Aplasia

  • Addison Disease, Chronic Adrenal Insufficiency

  • Primary Hypoadrenalism

  • Hypoadrenocorticism Familial

  • Autoimmune Addison Disease

  • Autoimmune Adrenalitis

  • Classic Addison Disease

  • Primary Addison Disease

  • Addisons Disease

  • Addison Disease, Susceptibility To

  • Autoimmune Primary Adrenal Insufficiency

  • Addison'S Disease Due To Autoimmunity

Choriocarcinoma
  • Chorioepithelioma

Conn'S Syndrome
  • Cushing Syndrome

  • Hyperaldosteronism

  • Primary Hyperaldosteronism

  • Hypercortisolism

  • Primary Aldosteronism

  • Cushing'S Syndrome

  • Adrenal Gland Hyperfunction

  • Conn Syndrome

  • Hyperadrenalism

  • Ectopic Acth Syndrome

  • Hyperadrenocorticism

  • Cushing Disease

  • Cushing'S Disease

  • Adrenal Cortex Adenoma

  • Corticotroph Pituitary Adenoma

  • Pituitary Corticotroph Micro-Adenoma

  • Pituitary-Dependent Cushing Syndrome

  • Pituitary Acth Hypersecretion

  • Acth Syndrome, Ectopic

  • Acth-Secreting Pituitary Adenoma

  • Adrenal Hyperfunction Resulting From Pituitary Acth Excess

  • Ectopic Adrenocorticotropic Hormone Syndrome

  • Nodular Primary Adrenocortical Dysplasia

  • Pituitary Dependent Cushing Syndrome

  • Pituitary Cushing Syndrome

  • Pituitary-Dependant Cushing Syndrome

  • Pituitary-Dependant Hypercortisolism

  • Pituitary-Dependant Hypercortisolism Disorder

  • Aldosteronism Primary

  • Acth Syndrome Ectopic

  • Adrenal Cushing'S Syndrome

  • Adrenal Cortical Adenoma

  • Cushing Syndrome Nos

  • Cortisol Hypersecretion

  • Corticoadrenal Hypersecretion

  • Cushing Syndrome Secondary To Ectopic Acth-Secretion

  • Ectopic Cushing Syndrome

  • Hypercortisolism Due To Nonpituitary Tumour

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

  • Idiopathic Aldosteronism

  • Aldosteronism

  • Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

  • Primary Aldosteronism Due To Adrenal Hyperplasia

Leydig Cell Tumor
  • Leydig Cell Neoplasm

  • Tumor, Leydig Cell

  • Leydig Cell Tumor, Benign

Adrenal Cortical Adenoma
  • Adrenocortical Adenoma

  • Adenoma Adrenocortical

Adrenal Adenoma
  • Adenoma Of The Adrenal Gland

  • Adrenal Incidentaloma

  • Adrenal Cortical Adenoma

  • Adrenocortical Adenoma

Antley-Bixler Syndrome
  • Trapezoidocephaly Synostosis Syndrome

  • Trapezoidocephaly-Synostosis Syndrome

  • Antley Bixler Syndrome

  • Multisynostotic Osteodysgenesis With Long Bone Fractures

  • Osteodysgenesis, Multisynostotic With Fractures

  • Antley-Bixler Syndrome, Autosomal Dominant

  • Antley-Bixler Syndrome Phenotype

Ovarian Hyperstimulation Syndrome
  • OHSS

  • Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous

  • Secondary Meig'S Syndrome

  • Ohss - [Ovarian Hyperstimulation Syndrome]

  • Hyperstimulation Of Ovaries Nos

  • Hyperstimulation Of Ovaries Associated With Induced Ovulation

Hypospadias
  • Hypospadias Familial

  • Familial Hypospadias

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
  • APS1

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  • Apeced

  • Pga I

  • Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

  • Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

  • Polyglandular Autoimmune Syndrome, Type 1

  • Autoimmune Polyglandular Syndrome Type 1

  • Autoimmune Polyendocrine Syndrome Type 1

  • Autoimmune Polyendocrinopathy Syndrome Type 1

  • Whitaker Syndrome

  • Aps Type 1

  • Polyglandular Type I Autoimmune Syndrome

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

  • Aps I

  • Autoimmune Polyglandular Syndrome, Type I

  • Polyglandular Autoimmune Syndrome, Type I

  • Aps 1

  • Autoimmune Polyglandular Syndrome Type I

  • Pga 1

  • Pga-I

  • Polyglandular Autoimmune Syndrome Type 1

  • Type I Polyglandular Autoimmune Syndrome

  • Aire Deficiency

  • Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

  • Autoimmune Polyglandular Syndrome, Type 1

  • Autoimmune Polyendocrinopathy Type 1

  • Apeced Syndrome

  • Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

  • Ham Syndrome

  • Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

  • Medac Syndrome

  • Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

  • Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

  • Aps-1

  • Autoimmune Polyendocrine Syndrome Type I

  • Autoimmune Polyendocrinopathy Syndrome Type I

  • Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

  • Polyglandular Autoimmune Syndrome Type I

  • Polyglandular Deficiency Syndrome Persian-Jewish Type

  • Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

  • Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Adrenal Cortical Carcinoma
  • Adrenocortical Carcinoma

  • Adrenal Cortex Carcinoma

  • Carcinoma Of The Adrenal Cortex

  • Acc

  • Adrenocortical Cancer

  • Carcinoma Adrenocortical

Steroid Inherited Metabolic Disorder
  • Steroid Metabolism, Inborn Errors

Adrenal Carcinoma
  • Adrenal Cancer

  • Adrenal Gland Cancer

  • Malignant Neoplasm Of Adrenal Gland

  • Adrenal Gland Neoplasms

  • Carcinoma Of The Adrenal Gland

  • Adrenal Neoplasm

  • Malignant Adrenal Tumor

  • Neoplasm Of Adrenal Gland

  • Tumor Of The Adrenal Gland

  • Adrenal Gland Neoplasm

  • Adrenocortical Carcinoma

  • Adrenal Gland Malignancy

  • Suprarenal Cancer

  • Malignant Neoplasm Of Suprarenal Gland

  • Malignant Neoplasm Of Adrenal Gland, Unspecified

  • Malignant Tumour Of Adrenal Gland

  • Suprarenal Gland Cancer

  • Primary Malignant Neoplasm Of Adrenal Gland

46,Xy Sex Reversal 2
  • Dosage-Sensitive Sex Reversal

  • Dss

  • SRXY2

  • 46,Xy Sex Reversal, Dax1-Related

  • 46xy Sex Reversal 2, Dosage-Sensitive

  • 46,Xy Sex Reversal Dax1-Related

Leydig Cell Hypoplasia
  • 46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency

  • 46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

  • 46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency

  • 46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

  • 46,Xy Disorder Of Sex Development Due To Lh Defects

  • Lh Resistance Due To Lh Receptor Deactivation

  • Leydig Cell Agenesis

  • Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect

  • Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency

  • Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

  • Lch

  • Hypoplasia, Leydig Cell

Familial Glucocorticoid Deficiency
  • Glucocorticoid Deficiency

  • Acth Resistance

  • Adrenal Unresponsiveness To Acth

  • Hereditary Unresponsiveness To Adrenocorticotropic Hormone

  • Isolated Glucocorticoid Deficiency

  • Glucocorticoid Deficiency, Familial

  • Glucocorticoid Deficiency 1

Ovarian Disease
  • Ovarian Dysfunction

  • Ovarian Diseases

  • Ovarian Disorders

  • Disorder Of Endocrine Ovary

Adrenal Cortical Hypofunction
  • Adrenal Cortical Insufficiency

  • Corticoadrenal Insufficiency

Adrenal Rest Tumor
  • Adrenal Rest Neoplasm

Adrenal Hypoplasia, Congenital
  • X-Linked Adrenal Hypoplasia Congenita

  • Congenital Adrenal Hypoplasia

  • AHC

  • Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism

  • Adrenal Hypoplasia Congenita

  • X-Linked Ahc

  • Ahch

  • Ahx

  • Ahc With Hhg

  • Cytomegalic Adrenocortical Hypoplasia

  • Ahc With Isolated Gonadotropin Deficiency

  • X-Linked Congenital Adrenal Hypoplasia

  • Congenital Adrenal Hypoplasia, X-Linked

  • Addison Disease, X-Linked

  • Primary Adrenal Hypoplasia

  • Adrenal Hypoplasia Congenital, X-Linked

  • X-Linked Addison Disease

  • X-Linked Adrenal Hypoplasia Congenital

  • Congenital Hypoplasia Of Adrenal Gland

  • Congenital Adrenal Gland Hypoplasia

  • Congenital Small Adrenal Gland

  • Adrenal Hypoplasia

  • Cah - [Congenital Adrenal Hypoplasia]

Adrenal Cortex Disease
  • Adrenal Cortex Diseases

Infertility
Adrenal Gland Disease
  • Adrenal Gland Diseases

  • Adrenal Gland Disorders

Corticosterone Methyloxidase Type I Deficiency
  • Cmo I Deficiency

  • Aldosterone Deficiency I

  • Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase

  • 18-Hydroxylase Deficiency

  • Hypoaldosteronism, Congenital, Due To Cmo I Deficiency

  • Corticosterone Methyloxidase Deficiency 1

  • Corticosterone Methyloxidase Type 1 Deficiency

  • Hyperreninemic Hypoaldosteronism, Familial, 1

  • Fhha1a

  • Steroid 18-Hydroxylase Deficiency

  • Aldosterone Synthase Deficiency

  • 18 Hydroxylase Deficiency

  • 18 Alpha Hydroxylase Deficiency

  • Aldosterone Deficiency 1

  • Aldosterone Deficiency Due To Defect In 18 Hydroxylase

  • Cmo 1 Deficiency

  • Corticosterone Methyloxidase 1 Deficiency

  • CMO-1 DEFICIENCY

  • Aldosterone Deficiency Due To Defect In 18-Hydroxylase

  • Corticosterone Methyl Oxidase Type I Deficiency

  • Corticosterone Methyl Oxidase Type Ii Deficiency

Pseudohermaphroditism
  • Indeterminate Sex And Pseudohermaphroditism

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
  • Image Syndrome

  • IMAGE

  • Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

  • Image Anomaly

  • Image Association

  • Fetal Growth Retardation

  • Pyle Metaphyseal Dysplasia

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Disorder Of Sexual Development
  • Disorder Of Sex Development

  • Disorders Of Sex Development

  • Sex Development Disorder

  • Sex Differentiation Disease

  • Dsd

  • Sex Differentiation Disorders

Achalasia-Addisonianism-Alacrima Syndrome
  • Allgrove Syndrome

  • Triple-A Syndrome

  • Achalasia-Addisonianism-Alacrimia Syndrome

  • Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

  • Triple A Syndrome

  • Aaa Syndrome

  • AAAS

  • Glucocorticoid Deficiency With Achalasia

  • Glucocorticoid Deficiency And Achalasia

  • Addisonian-Achalasia Syndrome

  • Hypoadrenalism With Achalasia

  • Alacrima-Achalasia-Addisonianism

  • Aaa

  • Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

  • Achalasia Addisonianism Alacrimia Syndrome

  • Achalasia Alacrima Syndrome

  • Addisonian Achalasia Syndrome

  • Achalasia-Addisonian Syndrome

  • Achalasia-Alacrima Syndrome

  • 2a Syndrome

  • 3a Syndrome

  • 4a Syndrome

  • Adrenal Insufficiency-Achalasia-Alacrima Syndrome

  • Double A Syndrome

  • Quaternary A Syndrome

  • Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

  • Allgrove'S Syndrome

  • Adrenal Gland Hypofunction

  • Adrenal Cortical Hypofunction

Asperger Syndrome
  • Asperger Disorder

  • Asperger Syndrome, Susceptibility To

Cryptorchidism, Unilateral Or Bilateral
  • Cryptorchidism

  • Undescended Testicle

  • Undescended Testis

  • Cryptorchism

  • Undescended Testicles

  • CRYPTO

  • Impaired Testicular Descent

  • Cryptosporidiosis

  • Retained Testis

  • Unilateral Cryptorchidism

  • Unilateral Undescended Testis

  • Nondescent Unilateral Testicle

  • Unilateral Cryptorchism

  • Ectopic Testis, Unilateral

  • Bilateral Cryptorchidism

  • Bilateral Cryptorchism

  • Bilateral Nondescent Testicle

  • Bilateral Undescended Testes

  • Bilateral Ectopic Testes

Premature Ovarian Failure 1
  • Ovarian Failure, Premature

  • Fmr1-Related Primary Ovarian Insufficiency

  • Fragile X-Associated Primary Ovarian Insufficiency

  • POF1

  • Pofx

  • Hypergonadotropic Ovarian Failure, X-Linked

  • Pof

  • Primary Ovarian Insufficiency, Fragile X-Associated

  • Primary Ovarian Insufficiency 1

  • Ovarian Failure Premature

  • Premature Ovarian Failure, X-Linked

  • Fragile X Premature Ovarian Failure

  • Fmr1-Related Premature Ovarian Failure

  • Familial Premature Ovarian Failure

  • Idiopathic Familial Premature Ovarian Failure

  • Fxpoi

  • X-Linked Hypergonadotropic Ovarian Failure

  • Hypergonadotropic Ovarian Failure X-Linked

  • Poi

  • Premature Ovarian Failure X-Linked

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure-1

  • Ovarian Failure, Premature, Type 1

  • Premature Ovarian Failure, Familial

  • Premature Menopause

  • Primary Hypogonadism

  • Turner Syndrome

Amelogenesis Imperfecta, Type Ig
  • Enamel-Renal Syndrome

  • Ers

  • Amelogenesis Imperfecta Type 1g

  • AI1G

  • Enamel-Renal-Gingival Syndrome

  • Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome

  • Aigfs

  • Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis

  • Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis

  • Amelogenesis Imperfecta Type Ig

  • Amelogenesis Imperfecta-Nephrocalcinosis Syndrome

  • Amelogenesis Imperfecta 1g

  • Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis

  • Amelogenesis Imperfecta Nephrocalcinosis

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
  • 17-Ksr Deficiency

  • Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

  • Pseudohermaphroditism, Male, With Gynecomastia

  • 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

  • Testosterone 17-Beta-Dehydrogenase Deficiency

  • 17-Ketosteroid Reductase Deficiency Of Testis

  • 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

  • 17-Ketoreductase Deficiency

  • 17-Ketosteroidreductase Deficiency

  • 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

  • Male Pseudohermaphroditism With Gynecomastia

  • 17 Alpha Ksr Deficiency

  • 17 Alpha Ketosteroid Reductase Deficiency Of Testis

  • 17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency

  • Male Pseudoherma-Phroditism With Gynecomastia

  • Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency

  • Male Pseudohermaphrodism With Gynecomastia

  • MPH

  • 17-Hydroxysteroid Dehydrogenase Deficiency

Spermatogenic Failure
  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Amelogenesis Imperfecta
  • Ai

  • Congenital Enamel Hypoplasia

  • Al - [Amelogenesis Imperfecta]

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CYP11A1 VGNC VGNC:110229
Rattus norvegicus CYP11A1 RGD RGD:69325
Macaca mulatta CYP11A1 VGNC VGNC:103616
Felis catus CYP11A1 VGNC VGNC:103330
Mus musculus CYP11A1 MGD MGI:88582
Canis familiaris CYP11A1 VGNC VGNC:50329
Others CYP11A1 NCBI