PGM2L1
entrez
283209
canonical
uniprot
Q6PCE3
canonical
ensembl
ENSG00000165434
resolver
ensp
ENSP00000298198
resolver
ensp
ENSP00000537681
resolver
enst
ENST00000298198
resolver
genesymbol
PGM2L1
resolver
genesymbol_syn
BM32A
resolver
hgnc
HGNC:20898
resolver
uniprot
Q96MQ7
resolver
uniprot
Q9UIK3
resolver
uniprot_entry
PGM2L_HUMAN
resolver
uniprot_sec
Q96MQ7
resolver
uniprot_sec
Q9UIK3
resolver
amino_acid_sequence
MAENTEGDLNSNLLHAPYHTGDPQLDTAIGQWLRWDKNPKTKEQIENLLRNGMNKELRDRLCCRMTFGTAGLRSAMGAGFCYINDLTVIQSTQGMYKYLERCFSDFKQRGFVVGYDTRGQVTSSCSSQRLAKLTAAVLLAKDVPVYLFSRYVPTPFVPYAVQKLKAVAGVMITASHNRKEDNGYKVYWETGAQITSPHDKEILKCIEECVEPWNGSWNDNLVDTSPLKRDPLQDICRRYMEDLKKICFYRELNSKTTLKFVHTSFHGVGHDYVQLAFKVFGFKPPIPVPEQKDPDPDFSTVKCPNPEEGESVLELSLRLAEKENARVVLATDPDADRLAAAELQENGCWKVFTGNELAALFGWWMFDCWKKNKSRNADVKNVYMLATTVSSKILKAIALKEGFHFEETLPGFKWIGSRIIDLLENGKEVLFAFEESIGFLCGTSVLDKDGVSAAVVVAEMASYLETMNITLKQQLVKVYEKYGYHISKTSYFLCYEPPTIKSIFERLRNFDSPKEYPKFCGTFAILHVRDVTTGYDSSQPNKKSVLPVSKNSQMITFTFQNGCVATLRTSGTEPKIKYYAEMCASPDQSDTALLEEELKKLIDALIENFLQPSKNGLIWRSV
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (NEDHFS) [MIM:620191]: An autosomal recessive neurodevelopmental disorder characterized by severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures may be present in affected individuals. {ECO:0000269|PubMed:33979636}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.106
uniprot
proteins
function
FUNCTION: Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate, as acceptors (PubMed:17804405). In vitro, also exhibits very low phosphopentomutase and phosphoglucomutase activity which are most probably not physiologically relevant (PubMed:17804405). {ECO:0000269|PubMed:17804405, ECO:0000269|PubMed:18927083, ECO:0000269|PubMed:33979636}.
uniprot
proteins
mass_dalton
70442
uniprot
proteins
protein_family
Phosphohexose mutase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17804405
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18927083
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
33979636
uniprot
proteins
sequence_length
622
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000305|PubMed:17804405}.
uniprot
proteins