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FLASH GENE

Symbol

SC5DL

contributors: - updated : 01-07-2006

HGNC name	sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like
HGNC id	10547

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LTSL lathosterolosis
Location	11q24.2-q24.3      Physical location : 121.163.387 - 121.184.117
Synonym name	lathosterol oxidase
Synonym symbol(s)	ERG3, SC5D
EC.number	1.3.3.2

DNA

TYPE	functioning gene
STRUCTURE	5.00 kb     5 Exon(s)    single Copie(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

in the 14kb FEN1 - VMD2 interval

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed V1 - - 2244 - 299 - Matsushima, Brunetti-Pierri 444 AA (Leonard) V2 - - 2164 - 236 - Brunetti-Pierri

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       highly Digestive liver       highly Nervous brain       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal cytochrome b(5)-like domain as well as three histidine-rich domain
	histidine box domain containing the active site for metal ion binding

HOMOLOGY

interspecies	homolog to fungal
	homolog to murine Sc5d

Homologene

FAMILY

sterol desaturase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth

basic FUNCTION	involved in cholesterol biosynthesis
	catalyzing a dehydrogenation to introduce C5-6 double bond into lathosterol

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	iron

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LTSL

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS