2. Gene
  3. CYB5A - cytochrome b5 type A Gene

CYB5A - cytochrome b5 type A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞色素 b5 A 型

种属: Homo sapiens

同用名: CYB5; MCB5; METAG

基因 ID: 1528 | 基因类型: protein coding

关于 CYB5A

Cytogenetic location: 18q22.3 Genomic coordinates (GRCh38): 18:74,250,846-74,291,963 (from NCBI)

This gene has 7 transcripts (splice variants), 214 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in liver (RPKM 226.1), kidney (RPKM 141.0) and 16 other tissues.

功能概要

该基因编码的蛋白质是一种膜结合细胞色素，可将铁血红蛋白 (高铁血红蛋白) 还原为亚铁血红蛋白，这是硬脂酰辅酶 A 去饱和酶活性所必需的。该基因的缺陷是导致 IV 型遗传性高铁血红蛋白血症的原因。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供，2010 年 6 月]

The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

CYB5A 基因产物(3)

mRNA Protein Name
NM_001190807.3 NP_001177736.1 cytochrome b5 isoform 3
NM_001914.4 NP_001905.1 cytochrome b5 isoform 2
NM_148923.4 NP_683725.1 cytochrome b5 isoform 1

CYB5A 蛋白结构

Cyt-b5

Cyt-b5: Cytochrome b5-like Heme/Steroid binding domain (11 - 84)

  • 0
  • 100
  • 134 a.a.
蛋白主名 其他名称

cytochrome b5

cytochrome b5 type A (microsomal)

重组 CYB5A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7858 Cytochrome b5/CYB5A Protein, Human (His) P00167 (M1-D134) ≥95%

关联疾病

疾病名称 别名
Methemoglobinemia And Ambiguous Genitalia

METAG

Methemoglobinemia Type Iv

Isolated 17,20-Lyase Deficiency, Pure

Methemoglobinemia Due To Deficiency Of Cytochrome B5

Methemoglobinemia Type 4

Methemoglobinemia Type Iv, Formerly

Methemoglobinemia Due To Deficiency Of Cytochrome B5, Formerly

Pure Isolated 17,20-Lyase Deficiency

Methemoglobinemia, Type Iv
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency

Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency

17-Alpha-Hydroxylase Deficiency

Deficiency Of Steroid 17-Alpha-Monooxygenase

Isolated 17,20-Lyase Deficiency

Adrenal Hyperplasia V

Congenital Adrenal Hyperplasia Type 5

17,20-Lyase Deficiency, Isolated

17-Alpha-Hydroxylase/17,20-Lyase Deficiency

17 Alpha-Hydroxylase/17,20-Lyase Deficiency

17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency

Cah Due To 17-Alpha-Hydroxylase Deficiency

Combined 17-Hydroxylase/17,20-Lyase Deficiency

46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency

17 Alpha Hydroxylase Deficiency

Congenital Adrenal Hyperplasia Due To 17 Alpha-Hydroxylase Deficiency

Adrenal Hyperplasia 5

AH5

Adrenal Hyperplasia Type V

Ah-V

Adrenal Hyperplasia, Congenital, Type 5
Methemoglobinemia
Congenital Methemoglobinemia

Hereditary Methemoglobinemia

Autosomal Recessive Methemoglobinemia

Methemoglobinemia Hereditary

Hemoglobin M Disease
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
Adrenal Cortical Adenoma

Adrenocortical Adenoma

Adenoma Adrenocortical
Oral Mucosa Leukoplakia

Leukoplakia, Oral

Leukoplakia Of Buccal Mucosa
Alzheimer Disease 13

AD13

Alzheimer Disease-13

Alzheimer'S Disease 13

Alzheimer'S Disease 13, Late Onset
Humeroradial Synostosis

Humero-Radial Fusion

Humero-Radial Synostosis

Ramer Ladda Syndrome
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
Sulfite Oxidase Deficiency, Isolated

Sulfite Oxidase Deficiency

Sulfocysteinuria

Isolated Sulfite Oxidase Deficiency

ISOD

Encephalopathy Due To Sulfite Oxidase Deficiency
Hemoglobinopathy

Hemoglobinopathies
Steroid Inherited Metabolic Disorder

Steroid Metabolism, Inborn Errors
Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia
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
Lynch Syndrome I

Lynch Syndrome 1

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

HNPCC1

Fcc1

Lynch Syndrome Ii

Colon Cancer, Familial Nonpolyposis, Type 1

Coca1

Familial Nonpolyposis Colon Cancer Type 1

Hereditary Nonpolyposis Colorectal Cancer Type 1

Hereditary Non-Polyposis Colorectal Cancer 1

Hereditary Non-Polyposis Colorectal Cancer 3

Hnpcc3

Lynch Cancer Family Syndrome

Lynch Syndrome

Lynch Syndrome Type I

Lynch Syndrome Type Ii

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1

Hereditary Nonpolyposis Colorectal Cancer

Colorectal Cancer, Hereditary Nonpolyposis, Type 3

Hereditary Non-Polyposis Colon Cancer Type 2
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03417 CYB5A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CYB5A VGNC VGNC:61308
Bos taurus CYB5A VGNC VGNC:50260
Macaca mulatta CYB5A VGNC VGNC:103805
Rattus norvegicus CYB5A RGD RGD:620558
Mus musculus CYB5A MGD MGI:1926952
Others CYB5A NCBI
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