GeneID: 19

Description:
FRMPD4 is a FERM and PDZ domain-containing protein and is highly expressed in parts of the brain. 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. Variation in FRMPD4 gene associated with F-cell numbers and HbF levels in male patients with sickle cell disease (SCD), but not in female patients. FRMPD4 is a candidate X-linked locus that could account for a significant fraction of the variation in F-cell and HbF levels in SCD.

Synonyms: PDZD10 , PDZK10

Comments:
N/A

Number of entries/variants: 2

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
4. Urio F, Nkya S, Rooks H, Mgaya JA, Masamu U, Zozimus Sangeda R, Mmbando BP, Brumat M, Mselle T, Menzel S, Luzzatto L, Makani J, F cell numbers are associated with an X-linked genetic polymorphism and correlate with haematological parameters in patients with sickle cell disease., Br J Haematol, 2020 PubMed