GSHB_HUMAN
Source:
hRBCD
; ID:
IPI00010706
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
GSS
Protein names and data:
GSHB_HUMAN
, Glutathione synthetase; GSH synthetase; GSH-S; 6.3.2.3
, Glutathione synthase
Lenght: 474 a.a.
Mass: 52385 Da
fasta formatted sequence
Catalytic activity:
ATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione.
Pathway:
Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2.
Disease:
( OMIM:
231900
266130
601002
)
Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. Note=The disease is caused by mutations affecting the gene represented in this entry. Glutathione synthetase deficiency of erythrocytes (GLUSYNDE) [MIM:231900]: Mild form causing hemolytic anemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
26 - 26
A -> D (in GSS deficiency). VAR_003602
188 - 188
L -> P (in GSS deficiency; 100-fold reduction of activity). VAR_003603
219 - 219
D -> A (in GSS deficiency). VAR_003604
219 - 219
D -> G (in GSS deficiency; dbSNP:rs28938472). VAR_003605
28938472
236 - 236
R -> Q (in dbSNP:rs34239729). VAR_025047
34239729
254 - 254
L -> R (in GSS deficiency). VAR_003606
267 - 267
R -> W (in GSS deficiency). VAR_003607
270 - 270
Y -> C (in GSS deficiency; 100-fold reduction of activity). VAR_003608
270 - 270
Y -> H (in GSS deficiency; 100-fold reduction of activity). VAR_003609
283 - 283
R -> C (in GSS deficiency; 10-fold reduction of activity). VAR_003610
286 - 286
L -> Q (in GSS deficiency). VAR_003611
330 - 330
R -> C (in GSS deficiency; dbSNP:rs148640446). VAR_003612
148640446
437 - 437
K -> E (in dbSNP:rs34852238). VAR_025048
34852238
464 - 464
G -> V (in GSS deficiency). VAR_003613
469 - 469
D -> E (in GSS deficiency). VAR_003614
Database cross-references
UniProt:
P48637
Ensembl:
ENST00000216951
Ensembl:
ENST00000451957
MIM:
231900
MIM:
266130
MIM:
601002
neXtProt:
NX_P48637
Antibodypedia:
P48637
(may not find the protein thus also not any antibody)
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