MYOC


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Related to MYOC: myocardial infarction

MYOC

A gene on chromosome 1q23-q24 that encodes myocilin, a protein thought to play a role in cytoskeletal function, which is highly expressed in ocular tissues including the trabecular meshwork, which regulates intraocular pressure.

Molecular pathology
MYOC mutations cause hereditary juvenile-onset open-angle glaucoma.
References in periodicals archive ?
MYOC gene locates at GLC1A locus on chromosome 1q23, includes three exons and encodes for 57kD MYOC protein, which is the first gene identified to be responsible for POAG.
C1456T in exon 3 of MYOC plays a major role in the pathogenesis of POAG.
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.
Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.
MYOC gene may not be playing a significant role in causing POAG and PACG in our population.
TABLE 1 Chromosomal location and known genes for different types of primary glaucomas Type Name Locus Inheritance #OMIM * Gene JOAG GLC1A 1q23-q25 AD** 601652 MYOC COAG GLC1B 2cen-q13 AD 606689 unknown GLC1C 3q21-q24 AD 601682 unknown GLC1D 8q23 AD 602429 unknown GLC1E 10pl5-p14 AD 602432 OPTN GLC1F 7q35-36 AD 603383 unknown PCG GLC3A 2p21 AR *** 601771 CYP1B1 GLC3B 1p36 AR 600975 unknown Type References JOAG Sheffield et al.
The membrane was incubated with antibodies against MYOC (1:500; Abcam, polyclonal, UK), CHOP (1:500; Cell Signaling, L63F7, USA), BCL2 (1:500; Abcam, bcl2/100, UK), and caspase-3 (1:1000; Abcam, 3G2, UK) in blocking buffer overnight at 4[degrees]C.
The mutant MYOC (mMYOC) cells were maintained in DMEM (Invitrogen, Carlsbad, CA, USA) supplemented with 10% fetal bovine serum and 1% penicillin/streptomycin.