CYP27B1 - cytochrome P450 family 27 subfamily B member 1 Gene

Also Known as VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1594

About CYP27B1

Cytogenetic location: 12q14.1 Genomic coordinates (GRCh38): 12:57,762,334-57,767,078 (from NCBI)

This gene has 7 transcripts (splice variants), 191 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 9.5), thyroid (RPKM 4.8) and 4 other tissues.

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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]

CYP27B1 Products (1)

mRNA Protein Name
NM_000785.4 NP_000776.1 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Molecular Function GO Annotation Evidence References Source
enables calcidiol 1-monooxygenase activity IDA
IDA: Inferred from direct assay
9415400 GOA
enables secalciferol 1-monooxygenase activity IDA
IDA: Inferred from direct assay
10518789 GOA
Biological Process GO Annotation Evidence References Source
involved in G1 to G0 transition IMP
IMP: Inferred from mutant phenotype
12496369 GOA
involved in bone mineralization IEP
IEP: Inferred from expression pattern
17023519 GOA
involved in calcitriol biosynthetic process from calciol IDA
IDA: Inferred from direct assay
9415400 GOA
involved in calcium ion homeostasis IMP
IMP: Inferred from mutant phenotype
9415400 GOA
involved in decidualization IEP
IEP: Inferred from expression pattern
16720713 GOA
involved in negative regulation of calcidiol 1-monooxygenase activity IDA
IDA: Inferred from direct assay
16549446 GOA
involved in negative regulation of cell growth IMP
IMP: Inferred from mutant phenotype
12496369 GOA
involved in negative regulation of cell population proliferation IDA
IDA: Inferred from direct assay
16549446 GOA
involved in positive regulation of keratinocyte differentiation IMP
IMP: Inferred from mutant phenotype
12496369 GOA
involved in positive regulation of vitamin D 24-hydroxylase activity IDA
IDA: Inferred from direct assay
16549446 GOA
involved in positive regulation of vitamin D receptor signaling pathway IDA
IDA: Inferred from direct assay
16549446 GOA
involved in regulation of bone mineralization IMP
IMP: Inferred from mutant phenotype
9415400 GOA
involved in response to estrogen IEP
IEP: Inferred from expression pattern
15795327 GOA
involved in response to lipopolysaccharide IDA
IDA: Inferred from direct assay
12855575 GOA
involved in response to type II interferon IDA
IDA: Inferred from direct assay
9282826 GOA
involved in response to vitamin D IDA
IDA: Inferred from direct assay
16549446 GOA
involved in vitamin D metabolic process IDA
IDA: Inferred from direct assay
9415400 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15589699 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

CYP27B1 Protein Structure

p450

p450: Cytochrome P450 (59 - 504)

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

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

  • 1alpha(OH)ase

Related Diseases

Diseases Alias
Vitamin D Hydroxylation-Deficient Rickets, Type 1a
  • Vitamin D-Dependent Rickets, Type 1a

  • Vitamin D-Dependent Rickets, Type 1

  • VDDR1A

  • 25-Hydroxycholecalciferol-1-Hydroxylase Deficiency

  • 1-Alpha-Hydroxylase Deficiency

  • Vdd1

  • Pddr1a

  • Pddr Ia

  • Vitamin D-Dependent Rickets, Type I

  • Vitamin D-Dependent Rickets Type 1a

  • 1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective

  • Vitamin D Dependency, Type 1

  • Pseudovitamin D-Deficiency Rickets, Type Ia

  • Rickets Vitamin D-Dependent 1a

  • 1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective

  • Pddr

  • Pseudovitamin D Deficiency Rickets

  • Pseudovitamin D-Deficiency Rickets Type Ia

  • Vitamin D Dependency Type 1

Hypocalcemic Vitamin D-Dependent Rickets
  • 1-Alpha-Hydroxylase Deficiency

  • Pddri

  • Pseudovitamin D-Deficient Rickets

  • Vddi

  • Vddr-I

  • Vitamin D Dependent Rickets Type I

  • Vitamin D-Dependency Type I

  • Vitamin D-Dependent Rickets, Type 1

Rickets
  • Vitamin D Deficiency

  • Vitamin D

  • Active Rickets

  • Hypovitaminosis D

  • Nutritional Rickets

  • Vitamin D Deficiency Disease

  • Vitamin-D Deficiency Rickets

  • Vitamin D-Dependent Rickets

  • Avitaminosis D

  • Infantile Osteomalacia

  • Juvenile Osteomalacia

Vitamin D-Dependent Rickets
  • Vddr

Vitamin D-Dependent Rickets, Type 2a
  • Hvdrr

  • Generalized Resistance To 1,25-Dihydroxyvitamin D

  • Hypocalcemic Vitamin D-Resistant Rickets

  • VDDR2A

  • Rickets, Hereditary Vitamin D-Resistant

  • Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

  • Pddr Iia

  • Rickets-Alopecia Syndrome

  • Rickets, Vitamin D-Resistant, Type Iia

  • Vitamin D-Dependent Rickets Type 2a

  • Vitamin D-Dependent Rickets, Type 2

  • Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

  • Generalized 1,25-Dihydroxyvitamin D

  • Pseudovitamin D-Deficiency, Type Iia

  • Hereditary Vitamin D-Resistant Rickets

  • Vddr Ii

  • Vdrr Ii

  • Vitamin D-Dependent Rickets Type Ii

  • Vitamin D-Resistant Rickets Type Ii

  • Rickets Vitamin D-Dependent 2a

  • Pseudovitamin D-Deficiency Type Iia

  • Rickets Hereditary Vitamin D-Resistant

  • Type Iia Rickets

  • Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia

  • Vitamin D-Dependent Rickets, Type Ii

  • Familial Hypophosphatemic Rickets

  • Hypophosphatemic Rickets, X-Linked Dominant

Secondary Hyperparathyroidism
  • Hyperparathyroidism Secondary

  • Hyperparathyroidism, Secondary

  • Secondary Hyperparathyroidism Nec

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Hyperparathyroidism
  • Hyperparathyroidism And Other Disorders Of Parathyroid Gland

  • Parathyroid Hyperfunction

  • Hpth - [Hyperparathyroidism]

  • Parathyroid Gland Hyperfunction

  • Parathyroid Glandular Hyperfunction

Hypocalcemia, Autosomal Dominant 1
  • Autosomal Dominant Hypocalcemia

  • Autosomal Dominant Hypocalcemia 1

  • HYPOC1

  • Hypocalcemia, Autosomal Dominant

  • Hypercalciuric Hypocalcemia

  • Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

  • Familial Hypocalcemia

  • Hypocalcemia, Familial

  • Hypoc

  • Adh

  • Autosomal Dominant Hypoparathyroidism

  • Familial Hypercalciuric Hypocalcemia

  • Ad Hypocalcemia

  • Autosomal Dominant Hypocalcemia With Bartter Syndrome

  • Hypoparathyroidism - Autosomal Dominant

  • Hypocalcemia

Vitamin D Hydroxylation-Deficient Rickets, Type 1b
  • VDDR1B

  • Vitamin D-Dependent Rickets Type 1b

  • Vitamin D-Dependent Rickets, Type 1b

  • 25-Hydroxyvitamin D3 Deficiency, Selective

  • Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency

  • Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency

  • Rickets Vitamin D-Dependent 1b

  • 25-Hydroxyvitamimn D3 Deficiency Selective

  • 25-Hydroxyvitamin D(3) Deficiency

  • Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency

  • Selective 25-Hydroxyvitamin D(3) Deficiency

  • Rickets Due To Defect In Vitamin D 25-Hydroxylation

Cerebrotendinous Xanthomatosis
  • CTX

  • Cerebral Cholesterinosis

  • Cholestanol Storage Disease

  • Xanthomatosis, Cerebrotendinous

  • Sterol 27-Hydroxylase Deficiency

  • Xanthomatosis Cerebrotendinous

  • Cerebrotendinous Cholesterinosis

  • Cholestanolosis

  • Van Bogaert-Scherer-Epstein Disease

Xanthomatosis
  • Xanthomatosis, Susceptibility To

  • Xanthelasmatosis

Primary Hyperparathyroidism
  • Familial Primary Hyperparathyroidism

  • Hyperparathyroidism, Primary

  • Hyperparathyroidism Primary

  • Hypocalciuric Hypercalcemia, Familial, Type 1

  • Familial Benign Hypercalcemia

  • Familial Hyperparathyroidism

  • Parathyroid Enlargement

Hypophosphatemic Rickets, X-Linked Recessive
  • Hypophosphatemic Rickets

  • X-Linked Recessive Hypophosphatemic Rickets

  • XLRHR

  • Hypophosphatemic Rickets Disorders

  • Rickets Hypophosphatemic

  • Rickets, Hypophosphatemic, X-Linked Recessive

  • Familial Hypophosphatemic Rickets

Graves' Disease
  • Graves Disease

  • Exophthalmic Goiter

  • Basedow'S Disease

  • Grave'S Disease

  • Basedow Disease

  • Toxic Diffuse Goiter

  • Graves' Hyperthyroidism

  • Parry Disease

  • Autoimmune Hyperthyroidism

  • Toxic Multinodular Goiter

Hypervitaminosis D
  • Vitamin D Hyperalimentation

Osteomalacia
  • Adult Rickets

Phosphorus Metabolism Disease
  • Phosphorus Metabolism Disorders

  • Disorder Of Phosphorus Metabolism

  • Phosphorus Disorder

  • Phosphorus Metabolism Disorder

Hypophosphatemia
  • Vitamin D-Resistant Rickets

  • Hereditary Hypophosphatemic Rickets

  • Vdrr

  • Vitamin D Resistant Rickets

  • Hypophosphatemic Rickets, X-Linked Dominant

  • Familial Hypophosphatemic Rickets

Autoimmune Disease
  • Autoimmune Diseases

  • Autoimmune Hypersensitivity Disease

  • Hypersensitivity Reaction Type Ii Disease

  • Type Ii Hypersensitivity Reaction Disease

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

Actinic Keratosis
  • Solar Keratosis

  • Actinic Keratosis

  • Senile Hyperkeratosis

  • Sk - Solar Keratosis

  • Keratosis, Actinic

  • Seborrheic Keratosis

  • Ak - [Actinic Keratosis]

  • Sk - [Solar Keratosis]

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

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

Hypophosphatemic Rickets, Autosomal Dominant
  • Autosomal Dominant Hypophosphatemic Rickets

  • ADHR

  • Autosomal Dominant Hypophosphatemia

  • Vitamin D-Resistant Rickets, Autosomal Dominant

  • Hypophosphatemia, Autosomal Dominant

  • Autosomal Dominant Vitamin D-Resistant Rickets

  • Rickets, Hypophosphatemic, Autosomal Dominant

Parathyroid Gland Disease
  • Parathyroid Diseases

  • Disease Of Parathyroid Glands

  • Parathyroid Disease

Hypophosphatemic Rickets, X-Linked Dominant
  • X-Linked Hypophosphatemia

  • Xlh

  • Vitamin D-Resistant Rickets, X-Linked

  • X-Linked Hypophosphatemic Rickets

  • XLHR

  • Hyp

  • Hypophosphatemic Vitamin D-Resistant Rickets

  • Hpdr

  • X-Linked Dominant Hypophosphatemic Rickets

  • Familial Hypophosphatemic Rickets

  • Hypophosphatemia, X-Linked

  • Hypophosphatemia, Vitamin D-Resistant Rickets

  • Hypophosphatemic Rickets X-Linked Dominant

  • X-Linked Vitamin D-Resistant Rickets

  • Hypophophatemia, X-Linked

  • Hypophophatemic Vitamin D-Resistant Rickets

  • Hypophosphatemia X-Linked

  • Vitamin D-Resistant Rickets X-Linked

  • Vitamin D-Resistant Rickets

  • Rickets, X-Linked Hypophosphatemic

Vitamin D-Dependent Rickets Type 2b
Autosomal Recessive Hypophosphatemic Rickets
  • Arhr

  • Hypophosphatemic Rickets, Autosomal Recessive

  • Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Multiple Sclerosis
  • MS

  • Multiple Sclerosis, Susceptibility To

  • Disseminated Sclerosis

  • Multiple Sclerosis, Disease Progression, Modifier Of

  • Insular Sclerosis

  • Multiple Sclerosis Modifier Of Disease Progression

  • Multiple Sclerosis, Susceptibility To 1

  • Multiple Sclerosis, Susceptibility To, 1

  • Multiple Sclerosis 1

  • Generalized Multiple Sclerosis

  • Multiple Sclerosis Variant

  • Multiple Sclerosis Susceptibility To

  • Cerebrospinal Sclerosis

  • Generalised Multiple Sclerosis

  • Ms - [Multiple Sclerosis]

  • Disseminated Cerebrospinal Sclerosis

  • Disseminated Multiple Sclerosis

  • Disseminated Nervous System Myelosclerosis

  • Multiple Cerebrospinal Sclerosis

  • Multiple Combined Sclerosis

  • Multiple Sclerosis Generalised

  • Disseminated Brain Sclerosis

  • Disseminated Spinal Sclerosis

  • Insular Brain Sclerosis

  • Miliary Brain Sclerosis

  • Multiple Combined Sclerosis Of Spinal Cord

  • Multiple Ascending Sclerosis

  • Multiple Brain Sclerosis

  • Multiple Sclerosis Of Brain Stem

  • Multiple Sclerosis Of The Brain Stem

  • Multiple Sclerosis Of Cord

  • Sclérose En Plaques

  • Plaque Sclerosis

  • Multiple Sclerosis Of The Spinal Cord

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Hashimoto Thyroiditis
  • Autoimmune Thyroiditis

  • Hashimoto Struma

  • Hashimoto'S Thyroiditis

  • Chronic Lymphocytic Thyroiditis

  • Lymphocytic Thyroiditis

  • Hashimoto Disease

  • Ht

  • Hashimoto'S Disease

  • Hashimoto'S Syndrome

  • Hypothyroidism, Autoimmune

  • Autoimmune Chronic Lymphocytic Thyroiditis

  • Chronic Lymphocytic Thyroiditides

  • Hashimoto Syndrome

  • Hashimotos Thyroiditis

  • Hashimoto Thyroiditis, Susceptibility To

  • Thyroiditis, Autoimmune

  • Lymphomatous Thyroiditis

  • Lymphoid Thyroiditis

  • Chronic Lymphadenoid Thyroiditis

  • Autoimmune Lymphocytic Chronic Thyroiditis

  • Goitre Lymphomatosa

  • Hashitoxicosis

  • Hashimoto Hypothyroidism

  • Lymphadenoid Goitre

  • Struma Lymphomatosa

  • Hyperthyroidism With Hashimoto Disease

  • Hashimoto Thyrotoxicosis

  • Thyrotoxicosis Due To Hashimoto Thyroiditis

  • Struma Lymphomatosis

  • Lymphadenoid Struma

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
  • Hyperphosphatemic Familial Tumoral Calcinosis

  • Hftc

  • Hyperostosis-Hyperphosphatemia Syndrome

  • Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

  • Tumoral Calcinosis, Hyperphosphatemic, Familial

  • Phptc

  • Lipocalcinogranulomatosis

  • Morbus Teutschlaender

  • Hhs

  • Hyperostosis With Hyperphosphatemia

  • Cortical Hyperostosis With Hyperphosphatemia

  • Primary Hyperphosphatemic Tumoral Calcinosis

  • Familial Tumoral Calcinosis

  • HFTC1

  • Hypercalcemic Tumoral Calcinosis

  • Hyperphosphatemia Hyperostosis

  • Hyperphosphatemia Hyperostosis Syndrome

  • Hyperphosphatemia Tumoral Calcinosis

  • Tumoral Calcinosis

  • Calcinosis, Tumoral, With Hyperphosphatemia

  • Tumoral Calcinosis, Primary Hyperphosphatemic

  • Teutschlaender Disease, Familial

  • Familial Teutschlaender Disease

  • Tumoral Calcinosis With Hyperphosphatemia

  • Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

  • Ftc/Hhs

  • Familial Tumoral Calcinosis With Hyperphosphatemia

  • Teutschlaender Disease

  • Tumoral Calcinosis Primary Hyperphosphatemic

  • Calcinosis, Tumoral, Hyperphosphatemic, Familial

Dental Abscess
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
  • Hereditary Hypophosphatemic Rickets With Hypercalciuria

  • HHRH

  • Hypophosphatemic Rickets With Hypercalciuria

  • Hypercalciuric Rickets

Metaphyseal Chondrodysplasia, Jansen Type
  • Metaphyseal Chondrodysplasia, Murk Jansen Type

  • Jansen'S Metaphyseal Chondrodysplasia

  • MCDJ

  • Murk Jansen Type Metaphyseal Chondrodysplasia

  • Jansen Type Metaphyseal Chondrodysplasia

  • Jansen Disease

  • Jansen Metaphyseal Chondrodysplasia

  • Jansen Metaphyseal Dysostosis

  • Metaphyseal Chondrodysplasia Murk Jansen Type

  • Chondrodysplasia, Metaphyseal, Murk Jansen Type

Sarcoidosis 1
  • Sarcoidosis

  • Boeck Sarcoid

  • Besnier-Boeck-Schaumann Disease

  • SS1

  • Sarcoidosis, Susceptibility To, 1

  • Lymphogranulomatosis

  • Hodgkin Disease

  • Boeck'S Disease

  • Boeck'S Sarcoid

  • Schaumann'S Disease Or Syndrome

  • Hutchinson-Boeck Disease Or Syndrome

Tuberculous Epididymitis
  • Tuberculosis Of Epididymis

Bone Disease
  • Bone Diseases

  • Skeletal Disease

  • Skeletal Disorder

  • Disorder Of Skeletal System

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

Diabetes Mellitus
  • Diabetes

Bone Remodeling Disease
Acute Promyelocytic Leukemia
  • Leukemia, Acute Promyelocytic

  • Acute Myeloblastic Leukemia Type 3

  • Aml M3

  • APL

  • Leukemia, Acute Promyelocytic, Somatic

  • Aml With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Apml

  • Acute Myeloblastic Leukemia 3

  • Acute Myeloid Leukemia With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Acute Myeloblastic Leukaemia Type 3

  • Acute Myeloid Leukaemia M3

  • Acute Myeloid Leukemia M3

  • Acute Promyelocytic Leukaemia

  • M3 Anll

  • Myeloid Leukemia, Acute, M3

  • Leukemia Promyelocytic Acute

  • Leukemia, Promyelocytic, Acute

  • Leukemia, Acute, Promyelocytic

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 CYP27B1 VGNC VGNC:110245
Rattus norvegicus CYP27B1 RGD RGD:69192
Mus musculus CYP27B1 MGD MGI:1098274
Felis catus CYP27B1 VGNC VGNC:103341
Canis familiaris CYP27B1 VGNC VGNC:50343
Macaca mulatta CYP27B1 VGNC VGNC:103625
Others CYP27B1 NCBI