CY24A_HUMAN
Source:
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
CYBA
Protein names and data:
CY24A_HUMAN
, Cytochrome b-245 light chain
, Cytochrome b(558) alpha chain; Cytochrome b558 subunit alpha; Neutrophil cytochrome b 22 kDa polypeptide; Superoxide-generating NADPH oxidase light chain subunit; p22 phagocyte B-cytochrome; p22-phox; p22phox
Lenght: 195 a.a.
Mass: 21013 Da
fasta formatted sequence
Function:
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.
Disease:
( OMIM:
233690
608508
)
Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane.
Genetic variants
24 - 24
G -> R (in ARCGD; dbSNP:rs28941476). VAR_012755
28941476
25 - 25
G -> V (in ARCGD; dbSNP:rs179363891). VAR_060576
179363891
52 - 52
L -> P (in ARCGD; dbSNP:rs179363890). VAR_060577
179363890
53 - 53
E -> V (in ARCGD; dbSNP:rs179363893). VAR_060578
179363893
72 - 72
Y -> H (in dbSNP:rs4673). VAR_005122
4673
90 - 90
R -> Q (in ARCGD). VAR_005123
90 - 90
R -> W (in ARCGD; dbSNP:rs179363892). VAR_060579
179363892
94 - 94
H -> R (in ARCGD). VAR_005124
118 - 118
S -> R (in ARCGD; dbSNP:rs104894514). VAR_005125
104894514
124 - 124
A -> V (in ARCGD; dbSNP:rs179363894). VAR_060580
179363894
125 - 125
A -> T (in ARCGD). VAR_060581
156 - 156
P -> Q (in ARCGD). VAR_005126
171 - 171
E -> G (in dbSNP:rs72667005). VAR_060582
72667005
174 - 174
V -> A (in dbSNP:rs1049254). VAR_054801
1049254
193 - 193
E -> D. VAR_060583
Database cross-references
UniProt:
P13498
Ensembl:
ENST00000261623
MIM:
233690
MIM:
608508
neXtProt:
NX_P13498
Antibodypedia:
P13498
(may not find the protein thus also not any antibody)
Local full text data:
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