| Gene Symbol |
BSCL2
|
| Entrez Gene |
26580
|
| Alt Symbol |
GNG3LG, HMN5, PELD, SPG17
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
| Other Description |
Bernardinelli-Seip congenital lipodystrophy type 2 protein|seipin
|
| Swissprots |
Q96G97 Q567S1 Q9BSQ0 Q96SV1 G3XAE4
|
| Accessions |
ACA50720 CAF86927 CAI93437 EAW74070 EAW74071 EAW74072 EAW74073 EAW74074 EAW74075 EAW74076 EAW74077 EAW74078 EAW74080 EAW74081 Q96G97 AF052149 AK027524 BAB55175 AK075317 BAC11543 AK223606 BAD97326 AK225029 AK315423 BC004911 AAH04911 BC009866 BC012140 AAH12140 BC041640 AAH41640 BC093048 AAH93048 BG699373 BM763152 BP370169 CD107822 DB178846 DB296305 DQ575792 DQ584208 DQ893483 ABM84409 EU176769 ABW03570 NM_001122955 NP_001116427 NM_001130702 NP_001124174 NM_032667 NP_116056 NR_037948 NR_037949
|
| Function |
Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues. {ECO:0000250, ECO:0000269|PubMed:19278620, ECO:0000269|PubMed:21533227}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:16574104, ECO:0000269|PubMed:18458148}; Multi-pass membrane protein {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:16574104, ECO:0000269|PubMed:18458148}.
|
| Tissue Specificity |
Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue. {ECO:0000269|PubMed:11479539, ECO:0000269|PubMed:18458148, ECO:0000269|PubMed:18585921}.
|
