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BSCL2

BSCL2

Protein-coding gene in the species Homo sapiens

Seipin is a protein that in humans is encoded by the BSCL2 gene. Mutations in BSCL2 are known to cause the following conditions: Congenital generalized

BSCL2

Seipin

Protein family

congenital lipodystrophy type 2 protein (BSCL2), and it is encoded by the corresponding gene of the same name, i.e. BSCL2. At protein level, seipin is expressed

Seipin

Congenital generalized lipodystrophy

Genetic disorder; extreme lack of fat under the skin

in the adipose tissue. In those who have Type 2 CGL, a mutation in the BSCL2 gene encoding the seipin protein and located at 11q13. This gene encodes

Congenital generalized lipodystrophy

Congenital_generalized_lipodystrophy

Hereditary spastic paraplegia

Group of genetic disorders affecting motor neurons controlling the lower limbs

morphology and lipid metabolism were linked to HSP. Mutations in ATL1, BSCL2 and ERLIN2 alter ER structure, specifically the tubular network and the

Hereditary spastic paraplegia

Hereditary_spastic_paraplegia

Distal hereditary motor neuropathy type V

Medical condition

Dierick, I.; Pavlović, S.; De Jonghe, P. (2010). "N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V

Distal hereditary motor neuropathy type V

Distal_hereditary_motor_neuropathy_type_V

C16orf58

Protein-coding gene in the species Homo sapiens

decarboxylase which is an enzyme which functions in cholesterol biosynthesis. BSCL2 BSCL2 is the Bernardinelli-Seip congenital lipodystrophy 2, or seipin. It located

C16orf58

List of genes mutated in cutaneous conditions

syndrome BLOCK153 BLOCK153 Hermansky–Pudlak syndrome type 8 BRAF Skin melanoma BSCL2 Berardinelli–Seip syndrome C282Y Hemochromatosis C7orf11 Trichothiodystrophy

List of genes mutated in cutaneous conditions

List_of_genes_mutated_in_cutaneous_conditions

List of human protein-coding genes 1

Q8IWQ3 1682 BRWD1 HGNC:12760; Q9NSI6 1683 BRWD3 HGNC:17342; Q6RI45 1684 BSCL2 HGNC:15832; Q96G97 1685 BSDC1 HGNC:25501; Q9NW68 1686 BSG HGNC:1116; P35613

List of human protein-coding genes 1

List_of_human_protein-coding_genes_1

TMEM19

Human gene and protein

"MC4R melanocortin 4 receptor [Homo sapiens (Human)] - Gene - NCBI". "BSCL2 BSCL2 lipid droplet biogenesis associated, seipin [Homo sapiens (Human)] -

TMEM19

Lipid droplet

Lipid-rich cellular organelle found mainly in adipose tissue

modulating these processes remains incompletely understood. Mutations in the BSCL2 gene, which encodes seipin, have been reported in patients with hereditary

Lipid droplet

Lipid_droplet

List of OMIM disorder codes

1; 608594; AGPAT2 Lipodystrophy, congenital generalized, type 2; 269700; BSCL2 Lipodystrophy, congenital generalized, type 3; 612526; CAV1 Lipodystrophy

List of OMIM disorder codes

List_of_OMIM_disorder_codes