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FLASH GENE
Symbol SRD5A3 contributors: mct - updated : 03-11-2010
HGNC name steroid 5 alpha-reductase 3
HGNC id 25812
Corresponding disease
CDG1Q congenital disorder of glycosylation, type 1Q
MRCCK mental retardation, cataract, coloboma and kyphosis
Location 4q12      Physical location : 56.212.408 - 56.237.866
Synonym name
  • steroid 5-alpha-reductase 2-like
  • SR type 3
  • Synonym symbol(s) FLJ13352, SRD5A2L, SRD5A2L1, S5AR 3
    EC.number 1.3.99.5
    DNA
    TYPE functioning gene
    STRUCTURE 25.46 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2660 - 318 - 2008 17986282
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text high expression in fetal brain tissue, especially in the cerebellum
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Yeast DFG10/YIL049W Gene
    Homologene
    FAMILY
  • steroid 5-alpha reductase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • polyprenol reductase, that is required for converting polyprenol to dolichol, confirming that the reduction of polyprenol is the major pathway for dolichol biosynthesis
  • likely to be the long-sought polyprenol reductase
  • polyprenol reductase with a crucial role in N-linked protein glycosylation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1Q , MRCCK
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in hormone-refractory prostate cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • maintenance of androgen-androgen receptor-pathway activation should be a promising molecular target for prostate cancer therapy
  • ANIMAL & CELL MODELS