SC5D

Summary

SC5D (sterol-C5-desaturase, HGNC:10547) is a protein-coding gene on chromosome 11q23.3-q24.1, encoding Lathosterol oxidase (O75845). Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC).

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described.

Source: NCBI Gene 6309 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lathosterolosis (Definitive, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 235 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 70
• Druggable target: yes
• MANE Select transcript: NM_006918

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10547
Approved symbol	SC5D
Name	sterol-C5-desaturase
Location	11q23.3-q24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000109929
Ensembl biotype	protein_coding
OMIM	602286
Entrez	6309

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 14 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000264027, ENST00000392789, ENST00000524683, ENST00000527183, ENST00000527762, ENST00000528991, ENST00000531140, ENST00000534230, ENST00000534455, ENST00000857575, ENST00000857576, ENST00000857577, ENST00000912800, ENST00000912801, ENST00000912802, ENST00000912803, ENST00000912804, ENST00000966281, ENST00000966282

RefSeq mRNA: 2 — MANE Select: NM_006918 NM_001024956, NM_006918

CCDS: CCDS8435

Canonical transcript exons

ENST00000264027 — 5 exons

Exon	Start	End
ENSE00000748823	121306386	121306486
ENSE00002165184	121307057	121313410
ENSE00002194815	121292771	121292816
ENSE00003576255	121303366	121303585
ENSE00003600347	121304361	121304493

Expression profiles

Bgee: expression breadth ubiquitous, 300 present calls, max score 98.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.5245 / max 1047.2201, expressed in 1810 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117182	53.9209	1805
117181	9.6150	1719
117179	4.7236	1596
117180	0.9344	621
117183	0.3306	117

Top tissues by expression

303 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.67	gold quality
pons	UBERON:0000988	97.76	gold quality
upper leg skin	UBERON:0004262	97.56	gold quality
right lobe of liver	UBERON:0001114	97.25	gold quality
liver	UBERON:0002107	97.07	gold quality
cortical plate	UBERON:0005343	97.05	gold quality
corpus epididymis	UBERON:0004359	96.89	gold quality
seminal vesicle	UBERON:0000998	96.56	gold quality
jejunal mucosa	UBERON:0000399	96.47	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.47	gold quality
islet of Langerhans	UBERON:0000006	96.29	gold quality
spinal cord	UBERON:0002240	96.25	gold quality
superior vestibular nucleus	UBERON:0007227	96.05	gold quality
substantia nigra pars compacta	UBERON:0001965	95.94	gold quality
mammalian vulva	UBERON:0000997	95.76	gold quality
ganglionic eminence	UBERON:0004023	95.52	gold quality
medulla oblongata	UBERON:0001896	95.14	gold quality
ventricular zone	UBERON:0003053	95.04	gold quality
pigmented layer of retina	UBERON:0001782	94.88	gold quality
choroid plexus epithelium	UBERON:0003911	94.82	gold quality
cartilage tissue	UBERON:0002418	94.68	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.58	gold quality
prefrontal cortex	UBERON:0000451	94.54	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.35	gold quality
inferior olivary complex	UBERON:0002127	93.88	gold quality
caput epididymis	UBERON:0004358	93.85	gold quality
embryo	UBERON:0000922	93.83	gold quality
subthalamic nucleus	UBERON:0001906	93.82	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.75	gold quality
cranial nerve II	UBERON:0000941	93.72	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

224 targeting SC5D, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4482-3P	99.98	72.50	3147

Literature-anchored findings (GeneRIF, showing 2)

• The EGR3 may not play a major role in schizophrenia susceptibility in the Chinese Han population. (PMID:20144677)
• The relationship between C-peptide concentrations and D5D enzyme activity estimates remained significant after adjusting for body mass index, waist circumference, and TNF-alpha. (PMID:27023786)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sc5d	ENSDARG00000044642
mus_musculus	Sc5d	ENSMUSG00000032018
rattus_norvegicus	Sc5d	ENSRNOG00000065944

Paralogs (3): MSMO1 (ENSG00000052802), CH25H (ENSG00000138135), FAXDC2 (ENSG00000170271)

Protein

Protein identifiers

Lathosterol oxidase — O75845 (reviewed: O75845)

Alternative names: C-5 sterol desaturase, Delta(7)-sterol 5-desaturase, Delta(7)-sterol C5(6)-desaturase, Lathosterol 5-desaturase, Sterol-C5-desaturase

All UniProt accessions (3): O75845, E9PPW5, E9PQ91

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid hormone synthesis. In addition to its essential role in cholesterol biosynthesis, it also indirectly regulates ferroptosis through the production of 7-DHC. By diverting the spread of damage caused by peroxyl radicals from the phospholipid components to its sterol nucleus, 7-DHC prevents this form of cell death.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Lathosterolosis (LATHOS) [MIM:607330] An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The histidine box domains may contain the active site and/or be involved in metal ion binding.

Pathway. Steroid biosynthesis; cholesterol biosynthesis.

Similarity. Belongs to the sterol desaturase family.

RefSeq proteins (2): NP_001020127, NP_008849* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006694	Fatty_acid_hydroxylase	Domain
IPR050307	Sterol_desaturase-rel	Family

Pfam: PF04116

Enzyme classification (BRENDA):

• EC 1.14.19.20 — DELTA7-sterol 5(6)-desaturase (BRENDA: 13 organisms, 54 substrates, 37 inhibitors, 17 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
5ALPHA-CHOLEST-7-EN-3BETA-OL	0.032–0.244	12
AVENASTEROL	0.14	1
EPISTEROL	0.0105	1
LATHOSTEROL	0.115	1
STIGMAST-7-EN-3BETA-OL	0.67	1
STIGMASTA-7,22-DIEN-3BETA-OL	0.08	1

Catalyzed reactions (Rhea), 3 shown:

• lathosterol + 2 Fe(II)-[cytochrome b5] + O2 + 2 H(+) = 7-dehydrocholesterol + 2 Fe(III)-[cytochrome b5] + 2 H2O (RHEA:46556)
• 5alpha-cholesta-7,24-dien-3beta-ol + 2 Fe(II)-[cytochrome b5] + O2 + 2 H(+) = 7-dehydrodesmosterol + 2 Fe(III)-[cytochrome b5] + 2 H2O (RHEA:47184)
• a Delta(7)-sterol + 2 Fe(II)-[cytochrome b5] + O2 + 2 H(+) = a Delta(5),Delta(7)-sterol + 2 Fe(III)-[cytochrome b5] + 2 H2O (RHEA:54320)

UniProt features (17 total): transmembrane region 4, sequence variant 3, short sequence motif 3, sequence conflict 2, chain 1, compositionally biased region 1, modified residue 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75845-F1	92.05	0.88

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 253

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)
R-HSA-6807047	Cholesterol biosynthesis via desmosterol (Bloch pathway)
R-HSA-9969901	Cholesterol biosynthesis from zymosterol (modified Kandutsch-Russell pathway)
R-HSA-6807062	Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)
R-HSA-1430728	Metabolism
R-HSA-1655829	Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-191273	Cholesterol biosynthesis
R-HSA-556833	Metabolism of lipids
R-HSA-8957322	Metabolism of steroids

MSigDB gene sets: 0 (showing top):

GO Biological Process (9): cholesterol biosynthetic process (GO:0006695), obsolete cholesterol biosynthetic process via desmosterol (GO:0033489), obsolete cholesterol biosynthetic process via lathosterol (GO:0033490), negative regulation of ferroptosis (GO:0110076), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202), lipid biosynthetic process (GO:0008610), sterol biosynthetic process (GO:0016126)

GO Molecular Function (4): C-5 sterol desaturase activity (GO:0000248), iron ion binding (GO:0005506), delta7-sterol 5(6)-desaturase activity (GO:0050046), oxidoreductase activity (GO:0016491)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Cholesterol biosynthesis	3
Metabolism of steroids	2
Regulation of cholesterol biosynthesis by SREBP (SREBF)	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid metabolic process	2
sterol desaturase activity	2
cholesterol metabolic process	1
sterol biosynthetic process	1
secondary alcohol biosynthetic process	1
negative regulation of programmed cell death	1
ferroptosis	1
regulation of ferroptosis	1
primary metabolic process	1
steroid metabolic process	1
lipid biosynthetic process	1
biosynthetic process	1
steroid biosynthetic process	1
sterol metabolic process	1
transition metal ion binding	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1471 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SC5D	FADS1	O60427	958
SC5D	EBP	Q15125	939
SC5D	NSDHL	Q15738	909
SC5D	CYP51A1	Q16850	908
SC5D	HSD17B7	P56937	897
SC5D	FDFT1	P37268	876
SC5D	DHCR7	Q9UBM7	830
SC5D	SQLE	Q14534	811
SC5D	DHCR24	Q15392	811
SC5D	TM7SF2	O76062	784
SC5D	HMGCS1	Q01581	767
SC5D	ERG28	Q9UKR5	751
SC5D	LSS	P48449	718
SC5D	IDI1	Q13907	716
SC5D	MVK	Q03426	711

IntAct

47 interactions, top by confidence:

A	B	Type	Score
IPPK	TMEM223	psi-mi:“MI:0914”(association)	0.530
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
RXFP4	SC5D	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
TSPAN17	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
TMEM63A	AP3B1	psi-mi:“MI:0914”(association)	0.530
P2RY1	SLC19A2	psi-mi:“MI:0914”(association)	0.530
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530
CCR6	PODXL	psi-mi:“MI:0914”(association)	0.530
CMKLR1	SC5D	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
SC5D	LZTFL1	psi-mi:“MI:0915”(physical association)	0.400
	TSPO	psi-mi:“MI:0914”(association)	0.350
YIPF3	TMEM223	psi-mi:“MI:0914”(association)	0.350
VIPR2	C15orf61	psi-mi:“MI:0914”(association)	0.350
VIPR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.350
TSPAN5	KLHL2	psi-mi:“MI:0914”(association)	0.350
TPRA1	BMPR1B	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
BSCL2	TMEM223	psi-mi:“MI:0914”(association)	0.350
AVPR2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CMTM5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
TSPAN10	KLRG2	psi-mi:“MI:0914”(association)	0.350
C5AR1	TCAF2	psi-mi:“MI:0914”(association)	0.350

BioGRID (64): SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Affinity Capture-MS), SC5D (Proximity Label-MS), SC5D (Proximity Label-MS)

ESM2 similar proteins: A0A0E0SNE8, A8WGT1, B4YQU1, C4R613, I1RFM2, O00767, O13666, O35532, O59715, O59933, O62849, O75845, O88822, O93875, O94298, O94457, O94523, P32353, P38992, P48618, P50860, P53045, Q15800, Q1LX59, Q20027, Q4R4Q4, Q4WB51, Q4WBI8, Q4WDL3, Q4WIX5, Q55D52, Q55D54, Q567X1, Q59VG6, Q5AJX2, Q5R574, Q5ZLL6, Q618G2, Q6CMK7, Q6UGB2

Diamond homologs: A0A0D1DT68, B8B6I2, I1RFM2, I1S1Q3, O35532, O75845, P50860, P53045, Q15800, Q4R4Q4, Q4W9I3, Q4WDL3, Q4WIX5, Q55D54, Q5R574, Q5ZLL6, Q69L93, Q6UGB2, Q754B9, Q7SBB6, Q7ZW77, Q8J207, Q96IV6, Q9CRA4, Q9GKT2, A0A0E0SNE8, O13666, O88822, O93875, O94457, P32353, Q39208, Q4WB51, Q59VG6, Q8NJ57, Q9AST3, Q9EQS5, Q9M883, Q9UUH4, Q9ZT29

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 54 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Class A/1 (Rhodopsin-like receptors)	6	15.3×	3e-04
GPCR ligand binding	5	11.1×	3e-03
GPCR downstream signalling	5	7.5×	4e-03
Signaling by GPCR	5	6.9×	4e-03
G alpha (i) signalling events	5	6.7×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of cytosolic calcium ion concentration	7	17.1×	3e-05
chemotaxis	5	14.2×	1e-03
adenylate cyclase-activating G protein-coupled receptor signaling pathway	6	14.1×	4e-04
phospholipase C-activating G protein-coupled receptor signaling pathway	5	13.7×	1e-03
G protein-coupled receptor signaling pathway	9	6.8×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

235 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	148
Likely benign	45
Benign	25

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
7356	NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser)	Pathogenic
916041	NM_006918.5(SC5D):c.630C>A (p.Asp210Glu)	Pathogenic
916042	NM_006918.5(SC5D):c.479C>G (p.Pro160Arg)	Pathogenic
7354	NM_006918.5(SC5D):c.86G>A (p.Arg29Gln)	Likely pathogenic
7355	NM_006918.5(SC5D):c.632G>A (p.Gly211Asp)	Likely pathogenic

SpliceAI

793 predictions. Top by Δscore:

Variant	Effect	Δscore
11:121303423:C:G	acceptor_gain	1.0000
11:121303583:AAGGT:A	donor_loss	1.0000
11:121303584:AG:A	donor_gain	1.0000
11:121303584:AGG:A	donor_loss	1.0000
11:121303585:GG:G	donor_gain	1.0000
11:121303585:GGTAA:G	donor_loss	1.0000
11:121303586:G:GG	donor_gain	1.0000
11:121303586:GTAAG:G	donor_loss	1.0000
11:121304359:A:AG	acceptor_gain	1.0000
11:121304360:G:GA	acceptor_gain	1.0000
11:121304360:GA:G	acceptor_gain	1.0000
11:121306385:GGATT:G	acceptor_gain	1.0000
11:121306430:A:AG	acceptor_gain	1.0000
11:121306430:ACT:A	acceptor_gain	1.0000
11:121306432:T:A	acceptor_gain	1.0000
11:121306437:T:G	acceptor_gain	1.0000
11:121306483:TAAG:T	donor_loss	1.0000
11:121306485:AGGTA:A	donor_loss	1.0000
11:121306486:GG:G	donor_loss	1.0000
11:121306488:T:A	donor_loss	1.0000
11:121303583:AAG:A	donor_gain	0.9900
11:121304338:A:G	acceptor_gain	0.9900
11:121304355:TTTCA:T	acceptor_loss	0.9900
11:121304357:TCAG:T	acceptor_loss	0.9900
11:121304358:CAGAA:C	acceptor_loss	0.9900
11:121304359:AG:A	acceptor_loss	0.9900
11:121304408:GA:G	donor_gain	0.9900
11:121304409:A:G	donor_gain	0.9900
11:121304480:A:T	donor_gain	0.9900
11:121304491:ATGG:A	donor_loss	0.9900

AlphaMissense

1998 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:121307354:G:C	D248H	0.998
11:121307355:A:C	D248A	0.998
11:121307105:A:C	S165R	0.997
11:121307107:T:A	S165R	0.997
11:121307107:T:G	S165R	0.997
11:121307355:A:T	D248V	0.997
11:121306433:G:C	D131H	0.996
11:121306434:A:C	D131A	0.996
11:121307077:T:A	H155Q	0.996
11:121307077:T:G	H155Q	0.996
11:121307329:T:A	N239K	0.996
11:121307329:T:G	N239K	0.996
11:121307351:T:A	W247R	0.996
11:121307351:T:C	W247R	0.996
11:121304412:A:C	S88R	0.995
11:121304414:T:A	S88R	0.995
11:121304414:T:G	S88R	0.995
11:121306434:A:T	D131V	0.995
11:121306454:C:G	H138D	0.995
11:121306466:C:G	H142D	0.995
11:121307063:C:G	H151D	0.995
11:121307297:C:G	H229D	0.995
11:121307308:C:A	H232Q	0.995
11:121307308:C:G	H232Q	0.995
11:121307075:C:G	H155D	0.994
11:121307141:A:C	S177R	0.994
11:121307143:T:A	S177R	0.994
11:121307143:T:G	S177R	0.994
11:121307299:T:A	H229Q	0.994
11:121307299:T:G	H229Q	0.994

dbSNP variants (sampled 300 via entrez): RS1000067050 (11:121310884 A>G), RS1000087414 (11:121303036 C>G), RS1000315943 (11:121291777 TAAAA>T,TAAAAA), RS1000433333 (11:121309895 C>T), RS1000516025 (11:121304871 C>A), RS1000584866 (11:121293283 G>T), RS1001033783 (11:121311348 G>C), RS1001089340 (11:121304652 C>T), RS1001210696 (11:121299452 T>C), RS1001265573 (11:121295384 A>G), RS1001270033 (11:121290934 A>G), RS1001381426 (11:121310919 T>C), RS1001633435 (11:121295050 C>T), RS1001707546 (11:121308407 T>G), RS1002196747 (11:121296224 C>CT)

Disease associations

OMIM: gene MIM:602286 | disease phenotypes: MIM:607330

GenCC curated gene-disease

Disease	Classification	Inheritance
lathosterolosis	Definitive	Autosomal recessive

Mondo (1): lathosterolosis (MONDO:0011816)

Orphanet (1): Lathosterolosis (Orphanet:46059)

HPO phenotypes

70 total (30 of 70 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000033	Ambiguous genitalia, male
HP:0000085	Horseshoe kidney
HP:0000212	Gingival overgrowth
HP:0000215	Thick upper lip vermilion
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000340	Sloping forehead
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000414	Bulbous nose
HP:0000463	Anteverted nares
HP:0000482	Microcornea
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0000939	Osteoporosis
HP:0001162	Postaxial hand polydactyly
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001328	Specific learning disability
HP:0001336	Myoclonus
HP:0001395	Hepatic fibrosis
HP:0001399	Hepatic failure
HP:0001406	Intrahepatic cholestasis

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001694_7	Response to taxane treatment (paclitaxel)	6.000000e-06
GCST005171_6	QT interval	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537880	Lathosterolosis (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3509588 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Cholesterol biosynthesis pathway

CTD chemical–gene interactions

83 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
perfluorooctane sulfonic acid	decreases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Aflatoxin B1	affects expression, decreases expression	3
entinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	decreases expression	2
Hydrogen Peroxide	increases expression, affects expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	2
Cyclosporine	decreases expression	2
Okadaic Acid	decreases expression	2
Copper Sulfate	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
methyleugenol	decreases expression	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
dodecyldimethylamine oxide	increases expression	1
isoquercitrin	affects cotreatment, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
nickel chloride	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
ochratoxin A	decreases expression	1
nickel sulfate	increases expression	1
isobutyl alcohol	increases abundance, affects cotreatment, decreases expression	1
chrysin	decreases expression	1
pentanal	decreases expression	1
dinophysistoxin 1	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3541197	Binding	Inhibition of SC5DL activity in human hepatocytes assessed as increase in lathosterol level per gram of protein by GC-MS analysis (Rvb = 47.7 ug)	Inhibition of human sterol Δ7-reductase and other postlanosterol enzymes by LK-980, a novel inhibitor of cholesterol synthesis. — Drug Metab Dispos

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05047354	Not specified	RECRUITING	Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism