Gene Function

Mediates the formation of lipid droplets during the differentiation and maturation of adipocytes. Together with LDAF1, defines the sites of lipid droplet formation in the endoplasmic reticulum and promotes the aggregation of triacylglycerol molecules to form the core of a lipid droplet (nucleation) in the endoplasmic reticulum and drive budding of lipid droplets into the cytoplasm. BSCL2 and LDAF1 also regulate protein and lipid delivery from the endoplasmic reticulum into growing lipid droplets. During early adipogenesis, BSCL2 inhibits GPAT3 and GPAT4 activity, thereby preventing phosphatidic acid accumulation that could antagonize PPARG and block differentiation (By similarity). This inhibition is then relieved by ADIG during adipocyte maturation, allowing expansion of lipid droplets (By similarity). Regulates the maturation of ZFYVE1-positive nascent lipid droplets and the function of the RAB18-ZFYVE1 complex in mediating the formation of endoplasmic reticulum-lipid droplet contacts. Binds anionic phospholipids including phosphatidic acid Source: UniProt

Relationship to CMT

dHMN/HMN AD
1 subtype
11q12.3

First described 2004

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypedHMN-5C	Inheritanceautosomal dominant	ClassdHMN/HMN	OMIM619112	Sentinel Publication Heterozygous Missense Mutations in BSCL2 are Associated with Distal Hereditary Motor Neuropathy and Silver syndrome 2004 · 10.1038/ng1313

Stored Identifiers

No HGNC Aliases

hgnc_idHGNC:15832

ensembl_gene_idENSG00000168000

coords_grch38chr11:62689289-62709861

coords_grch37chr11:62457747-62477317

entrez_id26580

omim_gene606158

uniprot_idsQ96G97

refseq_accessionNM_032667

mane_refseqNM_001122955.4

mane_ensemblENST00000360796.10

External recordsHGNC:15832OMIM 606158gnomADUniProt Q96G97ClinGenClinVar P/LPGeneReviewsOrphanetMANE NM_001122955.4

EvidenceClinGen Definitive distal hereditary motor neuropathyPanelApp Green

ClinVar Variants

Pathogenic and likely pathogenic variants in BSCL2, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

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