PMM2_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:
PMM2
Protein names and data:
PMM2_HUMAN
, Phosphomannomutase 2; PMM 2; 5.4.2.8
Lenght: 246 a.a.
Mass: 28082 Da
fasta formatted sequence
Function:
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (By similarity).
Catalytic activity:
Alpha-D-mannose 1-phosphate = D-mannose 6- phosphate.
Pathway:
Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6- phosphate: step 2/2.
Disease:
( OMIM:
212065
601785
)
Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Genetic variants
9 - 9
C -> Y (in CDG1A). VAR_022469
11 - 11
F -> C (in CDG1A). VAR_022470
15 - 15
G -> E (in CDG1A). VAR_022471
20 - 20
P -> S (in CDG1A; reduction of activity). VAR_022472
32 - 32
L -> R (in CDG1A). VAR_022473
37 - 37
Q -> H (in CDG1A; partial loss of activity). VAR_022474
37 - 37
Q -> L (in dbSNP:rs2304472). VAR_022133
2304472
42 - 42
G -> R. VAR_022475
44 - 44
V -> A (in CDG1A). VAR_006093
44 - 44
V -> L (in CDG1A). VAR_022563
64 - 64
Y -> C (in CDG1A). VAR_022476
65 - 65
D -> Y (in CDG1A). VAR_006094
67 - 67
V -> M (in CDG1A). VAR_022477
69 - 69
P -> S (in CDG1A). VAR_022478
76 - 76
Y -> C (in CDG1A). VAR_022479
93 - 93
E -> A (in CDG1A). VAR_022480
101 - 101
N -> K (in CDG1A). VAR_006095
103 - 103
C -> F (in CDG1A). VAR_022481
104 - 104
L -> V (in CDG1A). VAR_012344
106 - 106
Y -> C (in CDG1A). VAR_006096
108 - 108
A -> V (in CDG1A). VAR_006097
113 - 113
P -> L (in CDG1A). VAR_006098
117 - 117
G -> R (in CDG1A; loss of activity). VAR_006099
119 - 119
F -> L (in CDG1A; partial loss of activity). VAR_006100
120 - 120
I -> T (in CDG1A). VAR_022482
123 - 123
R -> Q (in CDG1A). VAR_006101
129 - 129
V -> M (in CDG1A; dbSNP:rs28938475). VAR_006102
28938475
131 - 131
P -> A (in CDG1A). VAR_006103
132 - 132
I -> F (in CDG1A; slightly reduced activity). VAR_022483
132 - 132
I -> N (in CDG1A). VAR_022484
132 - 132
I -> T (in CDG1A). VAR_006104
139 - 139
E -> K (in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity). VAR_009232
141 - 141
R -> C (in CDG1A; loss of activity). VAR_022485
141 - 141
R -> H (in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life; dbSNP:rs28936415). VAR_006105
28936415
144 - 144
F -> L (in CDG1A; dbSNP:rs150719105). VAR_022486
150719105
148 - 148
D -> N (in CDG1A). VAR_022487
151 - 151
E -> G (in CDG1A). VAR_022488
153 - 153
I -> T (in CDG1A). VAR_022489
157 - 157
F -> S (in CDG1A; dbSNP:rs190521996). VAR_022490
190521996
162 - 162
R -> W (in CDG1A). VAR_006106
172 - 172
F -> V (in CDG1A). VAR_022491
175 - 175
G -> R (in CDG1A). VAR_006107
176 - 176
G -> V (in CDG1A; loss of activity). VAR_022492
177 - 177
Q -> H (in CDG1A; partial loss of activity). VAR_022493
183 - 183
F -> S (in CDG1A). VAR_022494
185 - 185
D -> G (in CDG1A). VAR_022495
188 - 188
D -> G (in CDG1A; severe). VAR_006108
192 - 192
C -> G (in CDG1A; normal activity but lower affinity for alpha-D-mannose 1- phosphate). VAR_022496
195 - 195
H -> R (in CDG1A). VAR_022497
197 - 197
E -> A (in CDG1A; dbSNP:rs34258285). VAR_022498
34258285
206 - 206
F -> S (in CDG1A). VAR_022499
208 - 208
G -> A (in CDG1A). VAR_006109
212 - 212
M -> V (in dbSNP:rs3743808). VAR_022134
3743808
214 - 214
G -> S (in CDG1A). VAR_022500
216 - 216
N -> I (in CDG1A; dbSNP:rs78290141). VAR_006110
78290141
216 - 216
N -> S (in CDG1A; dbSNP:rs78290141). VAR_022501
78290141
217 - 217
D -> E (in CDG1A). VAR_022502
218 - 218
H -> L (in CDG1A). VAR_022503
223 - 223
D -> E (in CDG1A; normal activity but lower affinity for alpha-D-mannose 1- phosphate). VAR_006111
223 - 223
D -> N (in CDG1A). VAR_022504
226 - 226
T -> S (in CDG1A). VAR_022505
228 - 228
G -> C (in CDG1A). VAR_022506
228 - 228
G -> R (in CDG1A). VAR_022507
229 - 229
Y -> S (in CDG1A). VAR_006112
231 - 231
V -> M (in CDG1A). VAR_006113
233 - 233
A -> T (in CDG1A; could be a rare polymorphism). VAR_006114
237 - 237
T -> M (in CDG1A; dbSNP:rs80338708). VAR_006115
80338708
237 - 237
T -> R (in CDG1A; loss of activity; dbSNP:rs80338708). VAR_022508
80338708
238 - 238
R -> G (in CDG1A). VAR_022509
238 - 238
R -> P (in CDG1A). VAR_006116
241 - 241
C -> S (in CDG1A). VAR_022510
Database cross-references
UniProt:
O15305
Ensembl:
ENST00000268261
MIM:
212065
MIM:
601785
neXtProt:
NX_O15305
Antibodypedia:
O15305
(may not find the protein thus also not any antibody)
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