GeneID: 19



Names

Common Name: FRMPD4 Type: Gene
Chromosome: X (NC_000023.11) Locus: NG_016419.1 (FRMPD4)
HUGO Symbol: FRMPD4 Full Name: FERM and PDZ domain containing 4
Exons: 17 Introns: 16

Description:
This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. Polymorphism in the FRMPD4 gene has moderately strong association with HbF levels.

Synonyms: PDZD10 , PDZK10

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O, Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro., DNA Res. , 4(2), 141-50, 1997 PubMed
  2. Lee HW, Choi J, Shin H, Kim K, Yang J, Na M, Choi SY, Kang GB, Eom SH, Kim H, Kim E, Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis., J. Neurosci. , 28(53), 14546-56, 2008 PubMed
  3. Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster., Blood , 115(9), 1815-22, 2010 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 12:41:50 (Show full history)


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