LSS
entrez
4047
canonical
uniprot
P48449
canonical
ensembl
ENSG00000160285
resolver
ensp
ENSP00000348762
resolver
ensp
ENSP00000380837
resolver
ensp
ENSP00000409191
resolver
ensp
ENSP00000429133
resolver
genesymbol
LSS
resolver
genesymbol_syn
OSC
resolver
hgnc
HGNC:6708
resolver
uniprot
B2R694
resolver
uniprot
B4DJZ9
resolver
uniprot
D3DSN0
resolver
uniprot
E9PEI9
resolver
uniprot
G5E9Q9
resolver
uniprot
Q8IYL6
resolver
uniprot
Q9UEZ1
resolver
uniprot_entry
B2R694_HUMAN
resolver
uniprot_entry
LSS_HUMAN
resolver
uniprot_sec
B4DJZ9
resolver
uniprot_sec
D3DSN0
resolver
uniprot_sec
E9PEI9
resolver
uniprot_sec
G5E9Q9
resolver
uniprot_sec
Q8IYL6
resolver
uniprot_sec
Q9UEZ1
resolver
amino_acid_sequence
MTEGTCLRRRGGPYKTEPATDLGRWRLNCERGRQTWTYLQDERAGREQTGLEAYALGLDTKNYFKDLPKAHTAFEGALNGMTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLPAGYREEIVRYLRSVQLPDGGWGLHIEDKSTVFGTALNYVSLRILGVGPDDPDLVRARNILHKKGGAVAIPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAHPSTLWCHCRQVYLPMSYCYAVRLSAAEDPLVQSLRQELYVEDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALLNLYEHHHSAHLRQRAVQKLYEHIVADDRFTKSISIGPISKTINMLVRWYVDGPASTAFQEHVSRIPDYLWMGLDGMKMQGTNGSQIWDTAFAIQALLEAGGHHRPEFSSCLQKAHEFLRLSQVPDNPPDYQKYYRQMRKGGFSFSTLDCGWIVSDCTAEALKAVLLLQEKCPHVTEHIPRERLCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIMIDYTYVECTSAVMQALKYFHKRFPEHRAAEIRETLTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMGQTYRDGTACAEVSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTCWAMMGLMAVRHPDIEAQERGVRCLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFPIWALGRFSQLYPERALAGHP
uniprot
proteins
disease_involvement
DISEASE: Cataract 44 (CTRCT44) [MIM:616509]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269|PubMed:26200341, ECO:0000269|PubMed:29016354}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypotrichosis 14 (HYPT14) [MIM:618275]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair. {ECO:0000269|PubMed:30401459}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Alopecia-intellectual disability syndrome 4 (APMR4) [MIM:618840]: An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. {ECO:0000269|PubMed:30401459, ECO:0000269|PubMed:30723320}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.99.7
uniprot
proteins
function
FUNCTION: Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed:7639730). Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341). {ECO:0000269|PubMed:14766201, ECO:0000269|PubMed:26200341, ECO:0000269|PubMed:7639730}.
uniprot
proteins
mass_dalton
83309
uniprot
proteins
pathway_participation
PATHWAY: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 3/3.
uniprot
proteins
protein_family
Terpene cyclase/mutase family
uniprot
proteins
pubmed
10598817
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14766201
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15525992
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26200341
uniprot
proteins
pubmed
29016354
uniprot
proteins
pubmed
30401459
uniprot
proteins
pubmed
30723320
uniprot
proteins
pubmed
7639730
uniprot
proteins
pubmed
8593458
uniprot
proteins
pubmed
8655142
uniprot
proteins
sequence_length
732
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14766201, ECO:0000269|PubMed:15525992, ECO:0000269|PubMed:30401459}; Peripheral membrane protein {ECO:0000269|PubMed:14766201, ECO:0000269|PubMed:15525992}.
uniprot
proteins