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FLASH GENE
Symbol CFAP44 contributors: mct - updated : 04-07-2017
HGNC name cilia and flagella associated protein 44
HGNC id 25631
Corresponding disease
MIMAF3 Male Infertility with multiple Morphological Abnormalities of the sperm Flagella 3
Location 3q13.2      Physical location : -
Synonym name
  • WD repeat-containing protein 52
    • Synonym symbol(s) WDR52
    DNA
    TYPE functioning gene
    STRUCTURE 158.26 kb     35 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 - 10277 - 1854 - 2015 25602530
    21 - 3281 - 982 - 2015 25602530
    EXPRESSION
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • cilia- and flagella-associated protein that is specifically or preferentially expressed in the testis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MIMAF3
    Susceptibility to variation of cholesterol-lowering response to statins
    Variant & Polymorphism other
  • minor G allele of the rs13064411 polymorphism, associated with statin-induced PCSK9-levels, was associated with a decreased LDL-lowering and total cholesterol-lowering response to statins
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS