C8A - complement C8 alpha chain Gene

Homo sapiens

Gene ID: 731 | Gene type: protein coding

About C8A

Cytogenetic location: 1p32.2 Genomic coordinates (GRCh38): 1:56,854,797-56,918,223 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues, 39 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 74.5).

Summary

C8 is a component of the Complement System and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on Bacterial membranes to form a pore, permitting disruption of Bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]

C8A Products(1)

mRNA	Protein	Name
NM_000562.3	NP_000553.1	complement component C8 alpha chain preproprotein

C8A Protein Structure

Ldl_recept_a

MACPF

TSP_1

0
100
200
300
400
500
584 a.a.

Protein Preferred Names

Protein Names

complement component C8 alpha chain

complement component 8 alpha subunit

Related Diseases

Diseases

Alias

Complement Component 8 Deficiency, Type I

C8 Alpha-Gamma Deficiency	Type I Complement Component 8 Deficiency
C8D1	C8 Deficiency Type I
Complement Component 8 Deficiency Type I	C8 Deficiency, Type I
C8ag Deficiency	Complement Component 8 Deficiency Type 1
C81 Deficiency	Complement Component 8 Deficiency, 1
Complement Component 8 Deficiency, Type 1

Immunodeficiency Due To A Late Component Of Complement Deficiency

Immunodeficiency Due To C5 To C9 Component Complement Deficiency

Terminal Complement Pathway Deficiency

Complement Component 8 Deficiency

C8 Deficiency

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd	Sensorineural Deafness With Mild Renal Dysfunction
Bartter Disease Type 4a	BARTS4A
Bartter Syndrome, Type 4a	Bartter Syndrome Type 4
Bartter Syndrome, Neonatal, With Sensorineural Deafness	Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type 4a	Neonatal Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type Iv	Bartter Syndrome With Sensorineural Hearing Loss
Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness	Hyperprostanglandin E Syndrome 4
Hypokalemic Alkalosis With Hypercalciuria Antenatal 4	Infantile Bartter Syndrome With Sensorineural Deafness

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To
Ahus	AHUS1
Hemolytic-Uremic Syndrome	Ahus 1
Ahus, Susceptibility To, 1	Hemolytic Uremic Syndrome, Atypical
Non-Shiga-Like Toxin-Associated Hus	Non-Stx-Hus
Nonenteropathic Hus	Atypical Hus
Shiga Toxin-Associated Hemolytic Uremic Syndrome	D+ Hus
Ehec-Hus	Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli
Hemolytic Uremic Syndrome With Diarrhea	Stec-Hus
Shiga-Like Toxin-Associated Hus	Stx-Hus
Typical Hus	Typical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies	Atypical Hus With Anti-Factor H Antibodies
Ahus With Anti-Factor H Antibodies	Ahus With Neutralizing Autoantibodies Against Factor H
Hemolytic Uremic Syndrome Atypical 1	Atypical Hemolytic Uremic Syndrome With H Factor Anomaly
D Hus	Hemolytic-Uremic Syndrome Without Diarrhea
Hemolytic-Uremic Syndrome, Atypical, Type 1	Hemolytic Uremic Syndrome, Typical

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01755	C8A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	C8A	VGNC	VGNC:26644
Macaca mulatta	C8A	VGNC	VGNC:70479
Mus musculus	C8A	MGD	MGI:2668347
Felis catus	C8A	VGNC	VGNC:60235
Canis familiaris	C8A	VGNC	VGNC:38600
Rattus norvegicus	C8A	RGD	RGD:1308355
Macaca fascicularis	C8A	NCBI
Others	C8A	NCBI