U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ABCA5 ATP binding cassette subfamily A member 5 [ Homo sapiens (human) ]

    Gene ID: 23461, updated on 5-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.

    Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.
    Palmer MA, Dias IHK, Smart E, Benatzy Y, Haslam IS.

    08/1/2023
    Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.

    Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.
    Raza R, Ullah A, Haider N, Krishin J, Shah M, Khan FU, Abdullah, Hansen T, Raza SI, Ahmad W, Basit S.

    02/27/2023
    Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle.

    Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle.
    Palmer MA, Smart E, Haslam IS., Free PMC Article

    09/4/2021
    Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.

    Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.
    Ray AG, Choudhury KR, Chakraborty S, Chakravarty D, Chander V, Jana B, Siddiqui KN, Bandyopadhyay A.

    02/2/2021
    This report represents the first extensive expression and functional study of ABCA5 in the human brain and our data suggest a plausible function of ABCA5 in the brain as a cholesterol transporter associated with Abeta generation

    ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology.
    Fu Y, Hsiao JH, Paxinos G, Halliday GM, Kim WS.

    08/22/2015
    our findings support ABCA5 as a gene underlying the congenital generalized hypertrichosis terminalis phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth.

    Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
    DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM., Free PMC Article

    12/20/2014
    The expression of ABCA5 was significantly elevated in parkinson disease brains compared to age- and gender-matched control brains.

    Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression.
    Kim WS, Halliday GM.

    06/21/2014
    Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.

    Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
    Saini V, Hose CD, Monks A, Nagashima K, Han B, Newton DL, Millione A, Shah J, Hollingshead MG, Hite KM, Burkett MW, Delosh RM, Silvers TE, Scudiero DA, Shoemaker RH., Free PMC Article

    02/23/2013
    The ABCB5 gene may be related to the properties of chemoresistance and aggressiveness of melanoma

    ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma.
    Vásquez-Moctezuma I, Meraz-Ríos MA, Villanueva-López CG, Magaña M, Martínez-Macias R, Sánchez-González DJ, García-Sierra F, Herrera-González NE.

    09/20/2010
    Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
    Shen M, Vermeulen R, Rajaraman P, Menashe I, He X, Chapman RS, Yeager M, Thomas G, Burdett L, Hutchinson A, Yuenger J, Chanock S, Lan Q., Free PMC Article

    04/7/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (4) articles

    Genetic susceptibility to distinct bladder cancer subphenotypes.
    Guey LT, García-Closas M, Murta-Nascimento C, Lloreta J, Palencia L, Kogevinas M, Rothman N, Vellalta G, Calle ML, Marenne G, Tardón A, Carrato A, García-Closas R, Serra C, Silverman DT, Chanock S, Real FX, Malats N, EPICURO/Spanish Bladder Cancer Study investigators.

    PTEN identified as important risk factor of chronic obstructive pulmonary disease.
    Hosgood HD 3rd, Menashe I, He X, Chanock S, Lan Q.

    Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
    Saito A, Kawamoto M, Kamatani N.

    Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
    Hosgood HD 3rd, Menashe I, Shen M, Yeager M, Yuenger J, Rajaraman P, He X, Chatterjee N, Caporaso NE, Zhu Y, Chanock SJ, Zheng T, Lan Q.

    09/24/2008
    There is a correlation of induction of ABCA5 and mRNA with differentiation of colonic neoplasms.

    Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor.
    Ohtsuki S, Kamoi M, Watanabe Y, Suzuki H, Hori S, Terasaki T.

    01/21/2010
    ABCA5 may have a role in prostatic intraepithelial neoplasia

    The ABCA5 protein: a urine diagnostic marker for prostatic intraepithelial neoplasia.
    Hu Y, Wang M, Veverka K, Garcia FU, Stearns ME.

    01/21/2010
    Cloning of ABCA5 and detection of a splice variant.

    Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant.
    Petry F, Kotthaus A, Hirsch-Ernst KI.

    01/21/2010
    firstprevious page of 1 nextlast