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FLASH GENE

Symbol

CYP26C1

contributors: shn - updated : 03-06-2012

HGNC name	cytochrome P450, family 26, subfamily C, polypeptide 1
HGNC id	20577

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FFDD4 focal facial dermal dysplasia 4
Location	10q23.33      Physical location : 94.821.020 - 94.828.453
Synonym name	cytochrome p450 26C1
Synonym symbol(s)	FLJ45301
EC.number	1.14.-.-

DNA

TYPE	functioning gene
STRUCTURE	7.43 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D10S583 - D10S1755 - CYP26C1 - D10S185 - D10S200 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_183374 6 - 1569 NP_899230 - 522 - -

EXPRESSION

Type	restricted

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 Nervous brain

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to Cyp26c1, Mus musculus
	ortholog to Cyp26c1, Rattus norvegicus
	ortholog to cyp26c1, Danio rerio

intraspecies

homolog to CYP26B1

Homologene

FAMILY

cytochrome P450 family

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	may play a specific role in catabolizing both all-trans and 9-cis isomers of retinoic acid (
	required for correct A-P patterning and production of migratory cranial neural crest cells in the developing brain

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	Metabolism of 9-cis and All-trans Isomers of Retinoic Acid (

PATHWAY

metabolism

energetic , lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FFDD4

Susceptibility

Variant & Polymorphism

Candidate gene	nonsyndromic optic nerve aplasia (
Marker
Therapy target

ANIMAL & CELL MODELS