full name
lamin B receptor

synonyms
DHCR14B, LMN2R, PHA, TDRD18, LBR, ENSG00000143815

HGNC
HGNC:6518

Entrez Gene
Gene:3930

ENSEMBL
ENSG00000143815

location
chr: 1
start: 225589204
stop: 225616557
strand: -

OMIM
OMIM:600024: LBR (Autosomal dominant inheritance)
OMIM:613471: ?Reynolds syndrome
OMIM:215140: Greenberg skeletal dysplasia
OMIM:618019: Pelger-Huet anomaly with mild skeletal anomalies
OMIM:169400: Pelger-Huet anomaly

transcripts
NM_194442.2
NM_002296.3

pathways
Cholesterol biosynthesis [NCBI:1270037] [REACTOME:R-HSA-191273] [PUBMED:3524618] [PUBMED:12668600] [PUBMED:1390320] [PUBMED:11969204] [PUBMED:16054061]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
cholesterol biosynthesis I [NCBI:142267] [BIOCYC:HUMAN_PWY66-341] [PUBMED:9683613] [PUBMED:9894009] [PUBMED:240818] [PUBMED:12133002] [PUBMED:9630650] [PUBMED:2614264] [PUBMED:14766201] [PUBMED:10710235] [PUBMED:9465114] [PUBMED:9653161] [PUBMED:2007571] [PUBMED:12618959] [PUBMED:3037232] [PUBMED:10666321] [PUBMED:10391219] [PUBMED:12829805] [PUBMED:11519011] [PUBMED:9634533]
cholesterol biosynthesis II (via 24,25-dihydrolanosterol) [NCBI:142266] [BIOCYC:HUMAN_PWY66-3] [PUBMED:9653161] [PUBMED:9634533] [PUBMED:10666321] [PUBMED:14766201] [PUBMED:9465114] [PUBMED:9683613]
cholesterol biosynthesis III (via desmosterol) [NCBI:142268] [BIOCYC:HUMAN_PWY66-4] [PUBMED:12618959] [PUBMED:2007571] [PUBMED:9630650] [PUBMED:12829805] [PUBMED:10391219] [PUBMED:240818] [PUBMED:12133002] [PUBMED:9894009] [PUBMED:10666321] [PUBMED:2614264] [PUBMED:10710235] [PUBMED:14766201]
superpathway of cholesterol biosynthesis [NCBI:142269] [BIOCYC:HUMAN_PWY66-5] [PUBMED:240818] [PUBMED:11519011] [PUBMED:9634533] [PUBMED:10666321] [PUBMED:14766201] [PUBMED:9465114] [PUBMED:10710235] [PUBMED:9683613] [PUBMED:12133002] [PUBMED:9894009] [PUBMED:12618959] [PUBMED:3037232] [PUBMED:2614264] [PUBMED:9630650] [PUBMED:10391219] [PUBMED:12829805] [PUBMED:2007571] [PUBMED:9653161]
zymosterol biosynthesis [NCBI:545317] [BIOCYC:HUMAN_PWY-6074] [PUBMED:10710235] [PUBMED:9630650] [PUBMED:8561481] [PUBMED:240818] [PUBMED:12829805] [PUBMED:12618959]