GALK1_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
GALK1
, GALK
Protein names and data:
GALK1_HUMAN
, Galactokinase; 2.7.1.6
, Galactose kinase
Lenght: 392 a.a.
Mass: 42272 Da
fasta formatted sequence
Function:
Major enzyme for galactose metabolism.
Catalytic activity:
ATP + alpha-D-galactose = ADP + alpha-D- galactose 1-phosphate.
Pathway:
Carbohydrate metabolism; galactose metabolism.
Disease:
( OMIM:
230200
604313
)
Galactosemia II (GALCT2) [MIM:230200]: Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
28 - 28
P -> T (in GALCT2; founder Romani mutation). VAR_008514
32 - 32
V -> M (in GALCT2). VAR_002547
36 - 36
G -> R (in GALCT2). VAR_023486
44 - 44
H -> Y (in GALCT2). VAR_023487
68 - 68
R -> C (in GALCT2). VAR_023488
184 - 184
I -> M. VAR_023489
198 - 198
A -> V (in GALCT2; mild deficiency; Osaka; dbSNP:rs80084721). VAR_015746
80084721
239 - 239
R -> Q (in GALCT2). VAR_023490
274 - 274
G -> D. VAR_023491
288 - 288
T -> M (in GALCT2). VAR_023492
338 - 338
V -> A. VAR_023493
346 - 346
G -> S (in GALCT2). VAR_023494
349 - 349
G -> S (in GALCT2). VAR_023495
384 - 384
A -> P (in GALCT2). VAR_023496
Database cross-references
UniProt:
P51570
Ensembl:
ENST00000225614
Ensembl:
ENST00000588479
MIM:
230200
MIM:
604313
neXtProt:
NX_P51570
Antibodypedia:
P51570
(may not find the protein thus also not any antibody)
Local full text data:
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