1. Gene
  2. CYB561 - cytochrome b561 Gene

CYB561 - cytochrome b561 Gene

中文名称:细胞色素 b561

种属: Homo sapiens

同用名: FRRS2; ORTHYP2; CYB561A1

基因 ID: 1534 | 基因类型: protein coding

关于 CYB561

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,432,304-63,446,639 (from NCBI)

This gene has 21 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in adrenal (RPKM 53.1), prostate (RPKM 31.9) and 23 other tissues.

功能概要

预测可启用跨膜单脱氢抗坏血酸还原酶活性。预测参与抗坏血酸稳态。预测位于嗜铬颗粒膜上。预计在溶酶体膜中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable transmembrane monodehydroascorbate reductase activity. Predicted to be involved in ascorbate homeostasis. Predicted to be located in chromaffin granule membrane. Predicted to be active in lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022]

CYB561 基因产物(4)

mRNA Protein Name
NM_001017916.2 NP_001017916.1 transmembrane ascorbate-dependent reductase CYB561 isoform 1
NM_001017917.2 NP_001017917.1 transmembrane ascorbate-dependent reductase CYB561 isoform 1
NM_001330421.2 NP_001317350.1 transmembrane ascorbate-dependent reductase CYB561 isoform 2
NM_001915.4 NP_001906.3 transmembrane ascorbate-dependent reductase CYB561 isoform 1

CYB561 蛋白结构

Cytochrom_B561

Cytochrom_B561: Eukaryotic cytochrome b561 (53 - 185)

  • 0
  • 100
  • 200
  • 251 a.a.
蛋白主名 其他名称

transmembrane ascorbate-dependent reductase CYB561

cytochrome b-561

关联疾病

疾病名称 别名
Orthostatic Hypotension 2

ORTHYP2

Dopamine Beta-Hydroxylase Deficiency

Noradrenaline Deficiency

Norepinephrine Deficiency

Dopamine Beta Hydroxylase Deficiency

Congenital Dopamine Beta-Hydroxylase Deficiency

Dopamine Beta-Hydroxylase Deficiency, Congenital

Dopamine Β-Hydroxylase

Dbh Deficiency

Glycogen Storage Disease Ixd

GSD9D

Gsd Ixd

Muscle Phosphorylase Kinase Deficiency

Muscle Glycogenosis

Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency

Glycogen Storage Disease Type 9d

Glycogen Storage Disease Type 9e

Glycogen Storage Disease Type Ixd

Glycogen Storage Disease Type Ixe

Glycogenosis Due To Muscle Phosphorylase Kinase Deficiency

Glycogenosis Type 9d

Glycogenosis Type 9e

Glycogenosis Type Ixd

Glycogenosis Type Ixe

Gsd Due To Muscle Phosphorylase Kinase Deficiency

Gsd Type 9d

Gsd Type 9e

Gsd Type Ixd

Gsd Type Ixe

Muscle Glycogenosis, X-Linked

X-Linked Muscke Glycogenosis

Glycogen Storage Disease 9d

X-Linked Muscle Glycogenosis

Storage Disease, Glycogen, Type Ixd

Corticosteroid-Binding Globulin Deficiency

CBG DEFICIENCY

Transcortin Deficiency

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CYB561 MGD MGI:103253
Rattus norvegicus CYB561 RGD RGD:1310987
Macaca mulatta CYB561 VGNC VGNC:71574
Canis familiaris CYB561 VGNC VGNC:49089
Felis catus CYB561 VGNC VGNC:61306
Bos taurus CYB561 VGNC VGNC:50257