CYBC1 - cytochrome b-245 chaperone 1 Gene

Homo sapiens

Also known as CGD5; Eros; C17orf62

Gene ID: 79415 | Gene type: protein coding

About CYBC1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:82,442,586-82,450,752 (from NCBI)

This gene has 51 transcripts (splice variants), 193 orthologues and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 26.0), lymph node (RPKM 25.5) and 25 other tissues.

Summary

Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in chronic granulomatous disease. [provided by Alliance of Genome Resources, Apr 2022]

CYBC1 Products(7)

mRNA	Protein	Name
NM_001033046.4	NP_001028218.1	cytochrome b-245 chaperone 1 isoform a
NM_001100407.3	NP_001093877.1	cytochrome b-245 chaperone 1 isoform a
NM_001100408.3	NP_001093878.1	cytochrome b-245 chaperone 1 isoform b
NM_001193653.2	NP_001180582.1	cytochrome b-245 chaperone 1 isoform a
NM_001193654.2	NP_001180583.1	cytochrome b-245 chaperone 1 isoform a
NM_001193655.2	NP_001180584.1	cytochrome b-245 chaperone 1 isoform a
NM_001193657.2	NP_001180586.1	cytochrome b-245 chaperone 1 isoform a

CYBC1 Protein Structure

DUF4564

0
100
187 a.a.

Protein Preferred Names

Protein Names

cytochrome b-245 chaperone 1

essential for reactive oxygen species protein

Related Diseases

Diseases

Alias

Granulomatous Disease, Chronic, Autosomal Recessive, 5

CGD5	Granulomatous Disease, Chronic, Due To Cybc1 Deficiency
Chronic Granulomatous Disease 5, Autosomal Recessive

Chronic Granulomatous Disease

Cgd	Granulomatous Disease, Chronic
Autosomal Recessive Chronic Granulomatous Disease	X-Linked Chronic Granulomatous Disease
Bridges-Good Syndrome	Congenital Dysphagocytosis
Quie Syndrome	Chronic Septic Granulomatosis
Chronic Granulomatous Disorder	Granulomatous Disease Chronic
Granulomatous Disease, Chronic, X-Linked

Hyperalphalipoproteinemia 1

Hyperalphalipoproteinemia	HALP1
Cetp Deficiency	Cholesterol-Ester Transfer Protein Deficiency
Familial Hyperalphalipoproteinemia	Cholesteryl Ester Transfer Protein Deficiency
Cept Deficiency	Cholesterol Ester Transfer Protein Deficiency

Lymphadenitis

Acute Lymphadenitis	Chronic Lymphadenitis
Adenitis	Chronic Adenitis
Acute Adenitis	Inflammation Of Lymph Node
Adenitis Nos	Inflammation Of Gland
Lymphatic Gland Inflammation	Lymph Gland Inflammation
Polyadenitis	Chronic Adenitis Of Any Lymph Node Except Mesenteric
Chronic Lymphadenitis Except Mesenteric	Chronic Non-Specific Lymphadenitis

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03426	CYBC1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CYBC1	RGD	RGD:1562022
Macaca mulatta	CYBC1	VGNC	VGNC:71601
Felis catus	CYBC1	VGNC	VGNC:98901
Canis familiaris	CYBC1	VGNC	VGNC:52590
Mus musculus	CYBC1	MGD	MGI:2384959
Bos taurus	CYBC1	VGNC	VGNC:52655

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