SC5D - sterol-C5-desaturase Gene

Also Known as ERG3; S5DES; SC5DL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6309

About SC5D

Cytogenetic location: 11q23.3-q24.1 Genomic coordinates (GRCh38): 11:121,292,771-121,313,410 (from NCBI)

This gene has 9 transcripts (splice variants), 251 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 29.7), prostate (RPKM 24.2) and 23 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

SC5D Products (2)

mRNA	Protein	Name
NM_001024956.3	NP_001020127.1	lathosterol oxidase
NM_006918.5	NP_008849.2	lathosterol oxidase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables C-5 sterol desaturase activity	EXP EXP: Inferred from Experiment	12189593	GOA
enables delta7-sterol 5(6)-desaturase activity	IDA IDA: Inferred from direct assay	10786622	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cholesterol biosynthetic process via lathosterol	IDA IDA: Inferred from direct assay	10786622	GOA
involved in negative regulation of ferroptosis	IMP IMP: Inferred from mutant phenotype	38297129	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	10786622	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SC5D Protein Structure

FA_hydroxylase

0
100
200
299 a.a.

Protein Preferred Names	Protein Names
lathosterol oxidase	3beta-hydroxysteroid-delta5-desaturase

Related Diseases

Diseases	Alias
Lathosterolosis	Sterol C5-Desaturase Deficiency LATHOS Sc5d Deficiency
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
X-Linked Chondrodysplasia Punctata 2	Happle Syndrome Cdpx2 Conradi-Hünermann Syndrome Chondrodysplasia Punctata 2, X-Linked X-Linked Dominant Chondrodysplasia Punctata Conradi-Hunermann Syndrome Conradi-Hünermann-Happle Syndrome Cdpxd Cpxd Chondrodystrophia Calcificans Congenita Conradi-Hunermann-Happle Syndrome X-Linked Chondrodysplasia Punctata Type 2 Chondrodysplasia Punctata, X-Linked Dominant Type
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b	Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a	MLC2A Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Ck Syndrome	CKS X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
Frontometaphyseal Dysplasia	Fmd Dysplasia, Frontometaphyseal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12473	SC5D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SC5D	VGNC	VGNC:45887
Mus musculus	SC5D	MGD	MGI:1353611
Macaca mulatta	SC5D	VGNC	VGNC:107638
Felis catus	SC5D	VGNC	VGNC:81944
Rattus norvegicus	SC5D	RGD	RGD:620775
Bos taurus	SC5D	VGNC	VGNC:34312
Others	SC5D	NCBI