GMPPB_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:
GMPPB
Protein names and data:
GMPPB_HUMAN
, Mannose-1-phosphate guanyltransferase beta; 2.7.7.13
, GDP-mannose pyrophosphorylase B; GTP-mannose-1-phosphate guanylyltransferase beta
Lenght: 360 a.a.
Mass: 39834 Da
fasta formatted sequence
Catalytic activity:
GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose.
Pathway:
Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1.
Disease:
( OMIM:
615320
615350
615351
615352
)
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. Note=The disease is caused by mutations affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Genetic variants
22 - 22
P -> S (in MDDGC14; causes protein aggregation). VAR_070142
27 - 27
D -> H (in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild- type). VAR_070143
32 - 32
P -> L (in MDDGB14; causes protein aggregation). VAR_070144
126 - 126
H -> D (in dbSNP:rs34345884). VAR_035372
34345884
184 - 184
Q -> R (in dbSNP:rs1466685). VAR_035373
1466685
185 - 185
R -> C (in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild- type). VAR_070145
287 - 287
R -> Q (in MDDGB14). VAR_070146
330 - 330
V -> I (in MDDGC14; causes protein aggregation). VAR_070147
334 - 334
D -> N (in MDDGA14; causes protein aggregation). VAR_070148
Database cross-references
UniProt:
Q9Y5P6
Ensembl:
ENST00000308375
Ensembl:
ENST00000308388
Ensembl:
ENST00000480687
MIM:
615320
MIM:
615350
MIM:
615351
MIM:
615352
neXtProt:
NX_Q9Y5P6
Antibodypedia:
Q9Y5P6
(may not find the protein thus also not any antibody)
Local full text data:
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