KEGG   Homo sapiens (human): 26580Help
Entry
26580             CDS       T01001                                 

Gene name
BSCL2, GNG3LG, HMN5, SPG17
Definition
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Organism
hsa  Homo sapiens (human)
Disease
H00266  
Hereditary spastic paraplegia (SPG)
H00419  
Congenital generalized lipodystrophy (CGL)
H00856  
Distal hereditary motor neuropathies (dHMN)
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
11q13
AA seq 462 aa AA seqDB search
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHP
ALPAMVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSY
MPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPE
SPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK
QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAF
IGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPE
GQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAA
LLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
NT seq 1389 nt NT seq  +upstreamnt  +downstreamnt
atgtctacagaaaaggtagaccaaaaggaggaagctggggaaaaagaggtgtgcggagac
cagatcaaaggaccggacaaagaggaggaaccaccagctgctgcatcccatggccagggg
tggcgtccaggtggcagagcagctaggaacgcaaggcctgaacctggggccagacaccct
gctctcccggccatggtcaacgaccctccagtacctgccttactgtgggcccaggaggtg
ggccaagtcttggcaggccgtgcccgcaggctgctgctgcagtttggggtgctcttctgc
accatcctccttttgctctgggtgtctgtcttcctctatggctccttctactattcctat
atgccgacagtcagccacctcagccctgtgcatttctactacaggaccgactgtgattcc
tccaccacctcactctgctccttccctgttgccaatgtctcgctgactaagggtggacgt
gatcgggtgctgatgtatggacagccgtatcgtgttaccttagagcttgagctgccagag
tcccctgtgaatcaagatttgggcatgttcttggtcaccatttcctgctacaccagaggt
ggccgaatcatctccacttcttcgcgttcggtgatgctgcattaccgctcagacctgctc
cagatgctggacacactggtcttctctagcctcctgctatttggctttgcagagcagaag
cagctgctggaggtggaactctacgcagactatagagagaactcgtacgtgccgaccact
ggagcgatcattgagatccacagcaagcgcatccagctgtatggagcctacctccgcatc
cacgcgcacttcactgggctcagatacctgctatacaacttcccgatgacctgcgccttc
ataggtgttgccagcaacttcaccttcctcagcgtcatcgtgctcttcagctacatgcag
tgggtgtgggggggcatctggccccgacaccgcttctctttgcaggttaacatccgaaaa
agagacaattcccggaaggaagtccaacgaaggatctctgctcatcagccagggcctgaa
ggccaggaggagtcaactccgcaatcagatgttacagaggatggtgagagccctgaagat
ccctcagggacagagggtcagctgtccgaggaggagaaaccagatcagcagcccctgagc
ggagaagaggagctagagcctgaggccagtgatggttcaggctcctgggaagatgcagct
ttgctgacggaggccaacctgcctgctcctgctcctgcttctgcttctgcccctgtccta
gagactctgggcagctctgaacctgctgggggtgctctccgacagcgccccacctgctct
agttcctga

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