MAL
entrez
4118
canonical
uniprot
P21145
canonical
ensembl
ENSG00000172005
resolver
ensp
ENSP00000304924
resolver
ensp
ENSP00000306568
resolver
ensp
ENSP00000310880
resolver
ensp
ENSP00000322860
resolver
genesymbol
MAL
resolver
hgnc
HGNC:6817
resolver
uniprot
Q6FH77
resolver
uniprot_entry
MAL_HUMAN
resolver
uniprot_sec
Q6FH77
resolver
amino_acid_sequence
MAPAAATGGSTLPSGFSVFTTLPDLLFIFEFIFGGLVWILVASSLVPWPLVQGWVMFVSVFCFVATTTLIILYIIGAHGGETSWVTLDAAYHCTAALFYLSASVLEALATITMQDGFTYRHYHENIAAVVFSYIATLLYVVHAVFSLIRWKSS
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 28 (HLD28) [MIM:620978]: A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD28 is an autosomal recessive form characterized by developmental delay and nystagmus in infancy, followed by significant learning disabilities and progressive motor deterioration within the first decade. {ECO:0000269|PubMed:35217805}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in vesicular trafficking from the Golgi apparatus to the cell membrane. Plays a role in the maintenance of the myelin sheath, and in axon-glia and glia-glia interactions. {ECO:0000250|UniProtKB:O09198}.
uniprot
proteins
mass_dalton
16714
uniprot
proteins
post_translational_modification
PTM: Lipoprotein.
uniprot
proteins
protein_family
MAL family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
3494249
uniprot
proteins
pubmed
35217805
uniprot
proteins
pubmed
8088843
uniprot
proteins
pubmed
8132541
uniprot
proteins
sequence_length
153
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:35217805}. Note=Found in lipid rafts. {ECO:0000250|UniProtKB:O09198}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..46; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 54..75; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 93..114; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 126..147; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins