PMM2
entrez
5373
canonical
uniprot
O15305
canonical
ensembl
ENSG00000140650
resolver
ensp
ENSP00000268261
resolver
genesymbol
PMM2
resolver
hgnc
HGNC:9115
resolver
uniprot
A0A0S2Z4J6
resolver
uniprot
A8K672
resolver
uniprot
B7Z6R0
resolver
uniprot
D3DUF3
resolver
uniprot
Q59F02
resolver
uniprot_entry
A0A0S2Z4J6_HUMAN
resolver
uniprot_entry
PMM2_HUMAN
resolver
uniprot_entry
Q59F02_HUMAN
resolver
uniprot_sec
A8K672
resolver
uniprot_sec
B7Z6R0
resolver
uniprot_sec
D3DUF3
resolver
amino_acid_sequence
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]: A form of congenital disorder of glycosylation, 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. CDG1A 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. {ECO:0000269|PubMed:10066032, ECO:0000269|PubMed:10527672, ECO:0000269|PubMed:10571956, ECO:0000269|PubMed:10602363, ECO:0000269|PubMed:10801058, ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:11058896, ECO:0000269|PubMed:11350185, ECO:0000269|PubMed:12357336, ECO:0000269|PubMed:15844218, ECO:0000269|PubMed:17307006, ECO:0000269|PubMed:9140401, ECO:0000269|PubMed:9497260, ECO:0000269|PubMed:9781039}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.2.8
uniprot
proteins
function
FUNCTION: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. {ECO:0000250|UniProtKB:Q92871}.
uniprot
proteins
mass_dalton
28082
uniprot
proteins
pathway_participation
PATHWAY: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.
uniprot
proteins
protein_family
Eukaryotic PMM family
uniprot
proteins
pubmed
10066032
uniprot
proteins
pubmed
10527672
uniprot
proteins
pubmed
10571956
uniprot
proteins
pubmed
10602363
uniprot
proteins
pubmed
10801058
uniprot
proteins
pubmed
11058895
uniprot
proteins
pubmed
11058896
uniprot
proteins
pubmed
11350185
uniprot
proteins
pubmed
12357336
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15844218
uniprot
proteins
pubmed
16540464
uniprot
proteins
pubmed
17307006
uniprot
proteins
pubmed
17850744
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9140401
uniprot
proteins
pubmed
9425221
uniprot
proteins
pubmed
9497260
uniprot
proteins
pubmed
9781039
uniprot
proteins
sequence_length
246
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins