ACBD6
entrez
84320
canonical
uniprot
Q9BR61
canonical
ensembl
ENSG00000230124
resolver
ensp
ENSP00000356567
resolver
ensp
ENSP00000495710
resolver
ensp
ENSP00000648021
resolver
ensp
ENSP00000708344
resolver
ensp
ENSP00000708347
resolver
enst
ENST00000367595
resolver
enst
ENST00000642319
resolver
genesymbol
ACBD6
resolver
hgnc
HGNC:23339
resolver
uniprot
B2RAA8
resolver
uniprot_entry
ACBD6_HUMAN
resolver
uniprot_entry
B2RAA8_HUMAN
resolver
amino_acid_sequence
MASSFLPAGAITGDSGGELSSGDDSGEVEFPHSPEIEETSCLAELFEKAAAHLQGLIQVASREQLLYLYARYKQVKVGNCNTPKPSFFDFEGKQKWEAWKALGDSSPSQAMQEYIAVVKKLDPGWNPQIPEKKGKEANTGFGGPVISSLYHEETIREEDKNIFDYCRENNIDHITKAIKSKNVDVNVKDEEGRALLHWACDRGHKELVTVLLQHRADINCQDNEGQTALHYASACEFLDIVELLLQSGADPTLRDQDGCLPEEVTGCKTVSLVLQRHTTGKA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with progressive movement abnormalities (NEDPM) [MIM:620785]: An autosomal recessive, progressive disorder characterized by global developmental delay, intellectual disability, significant expressive language impairment, behavioral abnormalities, and movement disorders including dystonia, spasticity and cerebellar ataxia associated with gait impairment. Additional features include facial dysmorphism, oculomotor anomalies, microcephaly, seizures and brain imaging abnormalities. Parkinsonism may develop in older patients. {ECO:0000269|PubMed:36457943, ECO:0000269|PubMed:37951597}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. Plays a role in protein N-myristoylation (PubMed:37951597). {ECO:0000269|PubMed:18268358, ECO:0000269|PubMed:37951597}.
uniprot
proteins
mass_dalton
31151
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18268358
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
36457943
uniprot
proteins
pubmed
37951597
uniprot
proteins
sequence_length
282
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18268358, ECO:0000269|PubMed:37951597}. Nucleus {ECO:0000269|PubMed:37951597}.
uniprot
proteins