full name
Bardet-Biedl syndrome 1

synonyms
BBS2L2, BBS1, ENSG00000174483

HGNC
HGNC:966

Entrez Gene
Gene:582

ENSEMBL
ENSG00000174483

location
chr: 11
start: 66278077
stop: 66301084
strand: +

OMIM
OMIM:209901: BBS1 (Autosomal recessive inheritance)
OMIM:209900: Bardet-Biedl syndrome 1

transcripts
NM_024649.4

pathways
BBSome-mediated cargo-targeting to cilium [NCBI:1268850] [REACTOME:R-HSA-5620922] [PUBMED:22072986] [PUBMED:19081074] [PUBMED:17574030] [PUBMED:15231740] [PUBMED:19575670] [PUBMED:20603001] [PUBMED:22139371] [PUBMED:24296415]
Cargo trafficking to the periciliary membrane [NCBI:1268848] [REACTOME:R-HSA-5620920] [PUBMED:20530210] [PUBMED:23150559] [PUBMED:23567335] [PUBMED:17574030] [PUBMED:19081074] [PUBMED:15314642] [PUBMED:22085962] [PUBMED:11384985] [PUBMED:20038682] [PUBMED:11684707] [PUBMED:20399632] [PUBMED:22389062] [PUBMED:9362062] [PUBMED:20603001] [PUBMED:22139371] [PUBMED:22326026] [PUBMED:15998802] [PUBMED:20145001] [PUBMED:12169685]
Cilium Assembly [NCBI:1268846] [REACTOME:R-HSA-5617833] [PUBMED:21427764] [PUBMED:23351793] [PUBMED:25040720] [PUBMED:17955020] [PUBMED:22118932] [PUBMED:22653444] [PUBMED:22389062] [PUBMED:20399632] [PUBMED:25047619] [PUBMED:20395968] [PUBMED:23945166] [PUBMED:19575670] [PUBMED:24296415] [PUBMED:20145001] [PUBMED:19602418]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]